- increased circulating HDL cholesterol level / IMPC
- increased total retina thickness / IMPC
- persistence of hyaloid vascular system / IMPC
- enlarged thyroid gland / IMPC
- abnormal retina blood vessel morphology / IMPC
- increased circulating bilirubin level / IMPC
- increased circulating calcium level / IMPC
- abnormal lens morphology / IMPC
- abnormal retina morphology / IMPC
- cataract / IMPC
- improved glucose tolerance / IMPC
- abnormal retina vasculature morphology / IMPC
- decreased body weight / IMPC
- increased circulating cholesterol level / IMPC
B6J.129S2-Hnf4atm1.1Ics/Ics
Status | Available to order |
EMMA ID | EM:12951 |
Citation information | RRID:IMSR_EM:12951 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
International strain name | B6J.129S2-Hnf4atm1.1Ics/Ics |
Alternative name | HNF4a CM |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Hnf4atm1.1Ics |
Gene/Transgene symbol | Hnf4a |
Information from provider
Provider | ICS, Institut Clinique de la Souris |
Provider affiliation | ICS, Institut Clinique de la Souris |
Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
Phenotypic information | Homozygous: NA Heterozygous: NA |
Breeding history | 6 backcross generations |
References | None available |
Homozygous fertile | not known |
Homozygous viable | not known |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- HNF1B-related autosomal dominant tubulointerstitial kidney disease / Orphanet_93111
- MODY / Orphanet_552
- Hyperinsulinism due to HNF4A deficiency / Orphanet_263455
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome / Orphanet_544628
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal embryo development / MGI
- abnormal ectoderm development / MGI
- absent mesoderm / MGI
- abnormal gastrulation / MGI
- decreased embryo size / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal extraembryonic tissue morphology / MGI
- abnormal lipid homeostasis / MGI
- no abnormal phenotype detected / MGI
- abnormal primitive streak formation / MGI
- increased circulating ketone body level / MGI
- hepatic steatosis / MGI
- decreased circulating triglyceride level / MGI
- decreased circulating free fatty acid level / MGI
- absent allantois / MGI
- increased ectoderm apoptosis / MGI
- embryonic growth retardation / MGI
- hypokalemia / MGI
- decreased circulating iron level / MGI
- absent amnion / MGI
- decreased circulating cholesterol level / MGI
- impaired glucose tolerance / MGI
- increased circulating bilirubin level / MGI
- absent chorion / MGI
- embryonic lethality, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- delayed gastrulation / MGI
- small visceral yolk sac / MGI
- increased embryonic tissue cell apoptosis / MGI