- 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 |
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:NAHeterozygous: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
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).