- 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
STOCK Hnf4atm1(cre)Sdv/H
Status | Available to order |
EMMA ID | EM:02506 |
International strain name | STOCK Hnf4atm1(cre)Sdv/H |
Alternative name | Hnf4 cre |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Hnf4atm1(cre)Sdv |
Gene/Transgene symbol | Hnf4a |
Information from provider
Provider | Elizabeth Robertson |
Provider affiliation | Sir William Dunn School of Pathology, University of Oxford |
Genetic information | Strain carries a knock-in of cre recombinase into the Hnf4a locus. Strain expresses Cre efficiently in the hepatocytes of the developing liver to allow conditional gene deletion or activation in this lineage. |
Phenotypic information | Homozygous lethal at mid gestation due to defects in liver formation. |
Breeding history | Backcrossed on a 129S/SvEv background. |
References | None available |
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
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
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