Successful long term collaborations with French and European partners (Fondation maladies rares, A.F.S.C.-C.F.C, Gencodys Consortium,…) allowed generation of customed mouse models for researchers investigating gene function and human pathophysiology.
 
More than 50 mouse rare disease models are now available for your research.
 
Find your model !

Gene table

For more details concerning the alleles, please contact us.

For clinical researchers who are looking for connections between gene and disease, International Mouse Phenotyping Consortium (IMPC) is a gene phenotyping discovery resource that provides an unprecedent volume of high quality data. Clinicians can use IMPC data to find relevant mouse models to human disease by orthologous gene and by shared phenotypic features.

Gene Mutation MGI link Phenotypes OMIM links
Ak7 KI MGI:1926051 Human gene: AK7
OMIM entry: 615364
Title: ADENYLATE KINASE 7; AK7
Ankrd11 KO-cKO MGI:1924337 Human gene: ANKRD11
OMIM entry: 611192
Title: ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11
  • KBG syndrome
Cdc27 PM-cKO MGI:102685 Human gene: CDC27
OMIM entry: 116946
Title: CELL DIVISION CYCLE 27; CDC27
Cdk8 KO-cKO MGI:1196224 Human gene: CDK8
OMIM entry: 603184
Title: CYCLIN-DEPENDENT KINASE 8; CDK8
Cdkl5 cKO MGI:1278336 Human gene: CDKL5
OMIM entry: 300203
Title: CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5
  • Epileptic encephalopathy, early infantile, 2
Cdsn cKO MGI:3505689 Human gene: CDSN
OMIM entry: 602593
Title: CORNEODESMOSIN; CDSN
  • Hypotrichosis 2
  • Peeling skin syndrome 1
Dnm2 KI MGI:109547 Human gene: DNM2
OMIM entry: 602378
Title: DYNAMIN 2; DNM2
  • Charcot-Marie-Tooth disease, axonal, type 2M
  • Charcot-Marie-Tooth disease, dominant intermediate B
  • Lethal congenital contracture syndrome 5
  • Myopathy, centronuclear
Dnmt3b PM MGI:1261819 Human gene: DNMT3B
OMIM entry: 602900
Title: DNA METHYLTRANSFERASE 3B; DNMT3B
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • ICF syndrome
Dnmt3b PM MGI:1261819 Human gene: DNMT3B
OMIM entry: 602900
Title: DNA METHYLTRANSFERASE 3B; DNMT3B
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • ICF syndrome
Dym KO MGI:1918480 Human gene: DYM
OMIM entry: 607461
Title: DYMECLIN; DYM
  • Dyggve-Melchior-Clausen disease
  • Smith-McCort dysplasia
Dync1h1 PM-cKO MGI:103147 Human gene: DYNC1H1
OMIM entry: 600112
Title: DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1
  • Charcot-Marie-Tooth disease, axonal, type 20
  • Mental retardation, autosomal dominant 13
  • Spinal muscular atrophy, lower extremity-predominant 1, AD
Dyrk1a cKO MGI:1330299 Human gene: DYRK1A
OMIM entry: 600855
Title: DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A
Egr2 PM MGI:95296 Human gene: EGR2
OMIM entry: 129010
Title: EARLY GROWTH RESPONSE 2; EGR2
  • Charcot-Marie-Tooth disease, type 1D
  • Dejerine-Sottas disease
  • Neuropathy, congenital hypomyelinating, 1
Fbn1 PM MGI:95489 Human gene: FBN1
OMIM entry: 134797
Title: FIBRILLIN 1; FBN1
  • Acromicric dysplasia
  • Aortic aneurysm, ascending, and dissection
  • Ectopia lentis, familial
  • Geleophysic dysplasia 2
  • Marfan lipodystrophy syndrome
  • Marfan syndrome
  • MASS syndrome
  • Stiff skin syndrome
  • Weill-Marchesani syndrome 2, dominant
Fgfr3 PM MGI:95524 Human gene: FGFR3
OMIM entry: 134934
Title: FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
  • Achondroplasia
  • Bladder cancer, somatic
  • CATSHL syndrome
  • Cervical cancer, somatic
  • Colorectal cancer, somatic
  • Crouzon syndrome with acanthosis nigricans
  • Hypochondroplasia
  • LADD syndrome
  • Muenke syndrome
  • Nevus, epidermal, somatic
  • SADDAN
  • Spermatocytic seminoma, somatic
  • Thanatophoric dysplasia, type I
  • Thanatophoric dysplasia, type II
Fkrp PM MGI:2447586 Human gene: FKRP
OMIM entry: 606596
Title: FUKUTIN-RELATED PROTEIN; FKRP
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Frmpd4 KO-cKO MGI:3042378 Human gene: FRMPD4
OMIM entry: 300838
Title: FERM AND PDZ DOMAINS-CONTAINING PROTEIN 4; FRMPD4
Gatad2b KO-cKO MGI:2443225 Human gene: GATAD2B
OMIM entry: 614998
Title: GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B; GATAD2B
Gfap PM MGI:95697 Human gene: GFAP
OMIM entry: 137780
Title: GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
  • Alexander disease
Gfap PM MGI:95697 Human gene: GFAP
OMIM entry: 137780
Title: GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
  • Alexander disease
Hnf1b PM MGI:98505 Human gene: HNF1B
OMIM entry: 189907
Title: HNF1 HOMEOBOX B; HNF1B
  • Diabetes mellitus, noninsulin-dependent
  • Renal cysts and diabetes syndrome
  • {Renal cell carcinoma}
Hnf1b cKO MGI:98505 Human gene: HNF1B
OMIM entry: 189907
Title: HNF1 HOMEOBOX B; HNF1B
  • Diabetes mellitus, noninsulin-dependent
  • Renal cysts and diabetes syndrome
  • {Renal cell carcinoma}
Hspg2 PM MGI:96257 Human gene: HSPG2
OMIM entry: 142461
Title: HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2
  • Dyssegmental dysplasia, Silverman-Handmaker type
  • Schwartz-Jampel syndrome, type 1
Kif5c PM-cKO MGI:1098269 Human gene: KIF5C
OMIM entry: 604593
Title: KINESIN FAMILY MEMBER 5C; KIF5C
  • Cortical dysplasia, complex, with other brain malformations 2
Larp7 cKO MGI:107634 Human gene: LARP7
OMIM entry: 612026
Title: La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 7; LARP7
Lrrk2 PM MGI:1913975 Human gene: LRRK2
OMIM entry: 609007
Title: LEUCINE-RICH REPEAT KINASE 2; LRRK2
  • {Parkinson disease 8}
Magel2 KO MGI:1351648 Human gene: MAGEL2
OMIM entry: 605283
Title: MAGE-LIKE 2; MAGEL2
  • Schaaf-Yang syndrome
Med17 PM MGI:2182585 Human gene: MED17
OMIM entry: 603810
Title: MEDIATOR COMPLEX SUBUNIT 17; MED17
Med23 PM MGI:1917458 Human gene: MED23
OMIM entry: 605042
Title: MEDIATOR COMPLEX SUBUNIT 23; MED23
Med23 cKO MGI:1917458 Human gene: MED23
OMIM entry: 605042
Title: MEDIATOR COMPLEX SUBUNIT 23; MED23
Med25 KO-cKO MGI:1922863 Human gene: MED25
OMIM entry: 610197
Title: MEDIATOR COMPLEX SUBUNIT 25; MED25
Mir124a-2 KO MGI:3618700
Mir137 cKO MGI:2676822 Human gene: MIR137
OMIM entry: 614304
Title: MICRO RNA 137; MIR137
Mypn PM MGI:1916052 Human gene: MYPN
OMIM entry: 608517
Title: MYOPALLADIN; MYPN
  • Cardiomyopathy, dilated, 1KK
  • Cardiomyopathy, familial restrictive, 4
  • Cardiomyopathy, hypertrophic, 22
Npc1 PM MGI:1097712 Human gene: NPC1
OMIM entry: 607623
Title: NPC1 GENE; NPC1
  • Niemann-Pick disease, type C1
  • Niemann-Pick disease, type D
Nphp4 cKO MGI:2384210 Human gene: NPHP4
OMIM entry: 607215
Title: NEPHROCYSTIN 4; NPHP4
  • Nephronophthisis 4
  • Senior-Loken syndrome 4
Nphs2 cKO MGI:2157018 Human gene: NPHS2
OMIM entry: 604766
Title: PODOCIN; NPHS2
  • Nephrotic syndrome, type 2
Opa3 PM MGI:2686271 Human gene: OPA3
OMIM entry: 606580
Title: OPA3 GENE; OPA3
  • 3-methylglutaconic aciduria, type III
  • Optic atrophy 3 with cataract
Park7 cKO MGI:2135637 Human gene: PARK7
OMIM entry: 602533
Title: ONCOGENE DJ1; DJ1
  • Parkinson disease 7, autosomal recessive early-onset
Parp1 KO-cKO MGI:1340806 Human gene: PARP1
OMIM entry: 173870
Title: POLY(ADP-RIBOSE) POLYMERASE 1; PARP1
Pcsk9 PM MGI:2140260 Human gene: PCSK9
OMIM entry: 607786
Title: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9
Phf8 cKO MGI:2444341 Human gene: PHF8
OMIM entry: 300560
Title: PHD FINGER PROTEIN 8; PHF8
Phox2b KI MGI:1100882 Human gene: PHOX2B
OMIM entry: 603851
Title: PAIRED-LIKE HOMEOBOX 2B; PHOX2B
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease
  • Neuroblastoma with Hirschsprung disease
  • {Neuroblastoma, susceptibility to, 2}
Pink1 cKO MGI:1916193 Human gene: PINK1
OMIM entry: 608309
Title: PTEN-INDUCED PUTATIVE KINASE 1; PINK1
Prps1 KO-cKO MGI:97775 Human gene: PRPS1
OMIM entry: 311850
Title: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
  • Arts syndrome
  • Charcot-Marie-Tooth disease, X-linked recessive, 5
  • Deafness, X-linked 1
  • Gout, PRPS-related
  • Phosphoribosylpyrophosphate synthetase superactivity
Ptch1 PM MGI:105373 Human gene: PTCH1
OMIM entry: 601309
Title: PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1
  • Basal cell carcinoma, somatic
  • Basal cell nevus syndrome
  • Holoprosencephaly 7
Ptchd1 KO-cKO MGI:2685233 Human gene: PTCHD1
OMIM entry: 300828
Title: PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1
Ptpn11 PM MGI:99511 Human gene: PTPN11
OMIM entry: 176876
Title: PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11
  • LEOPARD syndrome 1
  • Leukemia, juvenile myelomonocytic, somatic
  • Metachondromatosis
  • Noonan syndrome 1
Rpgrip1l cKO MGI:1920563 Human gene: RPGRIP1L
OMIM entry: 610937
Title: RPGRIP1-LIKE; RPGRIP1L
  • COACH syndrome
  • Joubert syndrome 7
  • Meckel syndrome 5
Scaper KO-cKO MGI:1925976 Human gene: SCAPER
OMIM entry: 611611
Title: S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM; SCAPER
Sdhb cKO MGI:1914930 Human gene: SDHB
OMIM entry: 185470
Title: SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB
  • Cowden syndrome 2
  • Gastrointestinal stromal tumor
  • Paraganglioma and gastric stromal sarcoma
  • Paragangliomas 4
  • Pheochromocytoma
Setbp1 KO-cKO MGI:1933199 Human gene: SETBP1
OMIM entry: 611060
Title: SET-BINDING PROTEIN 1; SETBP1
  • Mental retardation, autosomal dominant 29
  • Schinzel-Giedion midface retraction syndrome
Sh3bp2 PM MGI:1346349
Shank3 KI MGI:1930016
Spg11 PM-Flex MGI:2444989 Human gene: SPG11
OMIM entry: 610844
Title: SPG11 GENE; SPG11
  • Amyotrophic lateral sclerosis 5, juvenile
  • Charcot-Marie-Tooth disease, axonal, type 2X
  • Spastic paraplegia 11, autosomal recessive
Stx11 cKO MGI:1921982 Human gene: STX11
OMIM entry: 605014
Title: SYNTAXIN 11; STX11
Stxbp2 KO-cKO MGI:107370 Human gene: STXBP2
OMIM entry: 601717
Title: SYNTAXIN-BINDING PROTEIN 2; STXBP2
Trmt1 KO-cKO MGI:1289155 Human gene: TRMT1
OMIM entry: 611669
Title: tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1
Tti2 KO-cKO MGI:2384576 Human gene: TTI2
OMIM entry: 614426
Title: TELO2-INTERACTING PROTEIN 2; TTI2
Ttn PM MGI:98864 Human gene: TTN
OMIM entry: 188840
Title: TITIN; TTN
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9
  • Muscular dystrophy, limb-girdle, type 2J
  • Myopathy, early-onset, with fatal cardiomyopathy
  • Myopathy, proximal, with early respiratory muscle involvement
  • Tibial muscular dystrophy, tardive
Ttn cKO MGI:98864 Human gene: TTN
OMIM entry: 188840
Title: TITIN; TTN
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9
  • Muscular dystrophy, limb-girdle, type 2J
  • Myopathy, early-onset, with fatal cardiomyopathy
  • Myopathy, proximal, with early respiratory muscle involvement
  • Tibial muscular dystrophy, tardive
Tubb3 PM-cKO MGI:107813 Human gene: TUBB3
OMIM entry: 602661
Title: TUBULIN, BETA-3; TUBB3
  • Cortical dysplasia, complex, with other brain malformations 1
  • Fibrosis of extraocular muscles, congenital, 3A
Tubg1 PM-cKO MGI:101834 Human gene: TUBG1
OMIM entry: 191135
Title: TUBULIN, GAMMA-1; TUBG1
  • Cortical dysplasia, complex, with other brain malformations 4
Vapb cKO MGI:1928744 Human gene: VAPB
OMIM entry: 605704
Title: VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB
  • Amyotrophic lateral sclerosis 8
  • Spinal muscular atrophy, late-onset, Finkel type
Vps13b cKO MGI:1916380 Human gene: VPS13B
OMIM entry: 607817
Title: VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, B; VPS13B
Wdr62 cKO MGI:1923696 Human gene: WDR62
OMIM entry: 613583
Title: WD REPEAT-CONTAINING PROTEIN 62; WDR62
Wfs1 PM MGI:1328355 Human gene: WFS1
OMIM entry: 606201
Title: WFS1 GENE; WFS1
  • ?Cataract 41
  • Deafness, autosomal dominant 6/14/38
  • Wolfram syndrome
  • Wolfram-like syndrome, autosomal dominant
  • {Diabetes mellitus, noninsulin-dependent, association with}
Wnk1 KO MGI:2442092 Human gene: WNK1
OMIM entry: 605232
Title: PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
  • Neuropathy, hereditary sensory and autonomic, type II
  • Pseudohypoaldosteronism, type IIC
Zbtb1 KO-cKO MGI:2442326
Zc4h2 KO-cKO MGI:2679294 Human gene: ZC4H2
OMIM entry: 300897
Title: ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2
Zfpm2 PM MGI:1334444 Human gene: ZFPM2
OMIM entry: 603693
Title: ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2
  • 46XY sex reversal 9
  • Diaphragmatic hernia 3
  • Tetralogy of Fallot

What is a rare disease ?

A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000.

Over 7,000 rare diseases are now described, meaning that 3 million people are affected in France. This number is between 27 and 36 million people in Europe, affecting between 6 and 8% of the population in his life. 

 
  • 80% of rare diseases have identified genetic origins, mostly with a single gene involved. The genes responsible have been identified in approximately 45% of these disorders, suggesting there are 4000 to be discovered.  For rare genetic diseases for which a gene has been identified, the function and pathophysiology are commonly poorly understood, thus limiting development of appropriate therapeutics.  
  • Others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases affect children.
  • Rare diseases are usually severe, chronic, debilitating and often life-threatening.
  • For most rare diseases, there is currently no treatment, and many challenges remain.
  • Currently, patients must often face the disease with, at best, treatments against the symptoms.

All the page content is based on the following ressources : Rare Disease Day's web site, the last report from the European Union Committee of Experts on Rare Diseases (EUCERD) Icon European Report 2014 (2.6 MB)

PHENOMIN supports biomedical research on rare diseases

Since 2009, when the global research community started to apply modern genomics to rare disease research, scientists’ ability to identify the causative genes of diseases has increased exponentially. The genes of some 3 500–4 000 diseases are still unknown, but 5 to 10 of these new genes are found almost every week. Medical research is being transformed. Since 80% of rare disease are genetics, the mouse model became crucial in fundamental research for understanding rare diseases. 
 
Given the low number of people with (Less than 1/2000 patient in Europe), few studies have conducted by lack of staff significant. Rare diseases (including neuromuscular, metabolic, infectious, autoimmune, and cancer susceptibility), are generally serious and disabling in 65% known cases. The vast majority are also orphaned, which is to say that there is no therapeutic treatment. Mouse models for these disorders are triply useful.  Firstly, the models are useful for decrypting the mechanisms behind of the specific disease. Secondly, a platform for testing therapies, as illustrated by recent work published by Françoise Muscatelli’s team at the Institute of Neurobiology Mediterranean (Inmed, Marseille) with respect to the Prader Willi Syndrome, one of our oldest scientific collaborations. Finally, research into rare diseases can benefit research into common sporadic disorders like obesity and cardiovascular diseases, including strokes and heart attacks. Ongoing work with families affected by rare diseases will, step-by-step, offer insights into the details of the molecular processes that underlie common diseases, and this will eventually lead to the development of new therapies that may also have wider applications.
 
 
Behind all these argues PHENOMIN keeps its involvement in fuctional genomics research in the field of rare diseases
 

Our collaboration with the Fondation maladies rares

 

PHENOMIN shares and opens its activities/services to the French scientific community through joint calls with the Fondation maladies rares. 3 calls for projects were already launched since 2013 and have given a significant boost to the development of mouse models in the field of rare disease.
 
Call 1,February 2013=> 20 new mouse models
Call 2, January 2015 => 13 new mouse models 
Call 3, January 2017 => 12 new mouse models
 
  • These calls help to gain a better understanding of the pathophysiological mechanisms involved in rare diseases whose defective genes have been identified. Indeed, the Conditional Knock-Out (cKO), Knock-In (KI) and transgenic (TG) genetically modified mouse models together with the wealth of associated phenotypic data, will serve as a valuable, freely available, resource for French researchers investigating gene function and human pathophysiology. 
 
  • These calls support therapeutic proofs of concept, at the pre-clinical in vivo level. Indeed, producing these models meets a key objective in the development of a therapeutic strategy. After their initial in vitro testing, therapeutic proofs of concept must be tested in a living model that recapitulates as closely as possible both the phenotype and biological defects associated to the human disease. Such a model should provide appropriate data regarding the safety and the efficiency of the drug, thus evaluating its benefit/risk ratio, prior to conduct early phases of a therapeutic trial.

Our involvement in European research consortia

 
GENCODYS was a research consortium dedicated to discover the functions and dysfunctions of the brain. It works on “Genetic and Epigenetic Networks in Cognitive Dysfunction”. With this knowledge the consortium aims to work on developing possible cures and patient information. 
 
The consortium was funded by the European Union under the 7th framework program (Health- 241995). The consortium counted 16 members, 13 academic research groups, 2 SMEs and a patient network organization. Most consortium members are from European member states (namely Austria, Belgium, France, Germany, Great Britain and The Netherlands) but there are two non-European members (namely Iran and Pakistan).
 
The funding was stopped in April 2016.
More information on Gencodys web site
 
 

Our involvement in International Mouse Phenotype Consortium

The goal of the International Mouse Phenotyping Consortium (IMPC) is to discover functional insight for every gene by generating and systematically phenotyping 20,000 knockout mouse strains.

For clinical researchers who are looking for connections between gene and disease, IMPC is a gene phenotyping discovery resource that provides an unprecedent volume of high quality data. Clinicians can use IMPC data to find relevant mouse models to human disease by orthologous gene and by shared phenotypic features.