Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Hnf4atm1.2Gonz
Name:	hepatic nuclear factor 4, alpha; targeted mutation 1.2, Frank J Gonzalez
MGI ID:	MGI:2183525
Synonyms:	Hnf4-alpha-
Gene:	Hnf4a  Location: Chr2:163348731-163414827 bp, + strand  Genetic Position: Chr2, 84.32 cM
Alliance:	Hnf4atm1.2Gonz page

Germline Transmission:	Earliest citation of germline transmission: J:67396
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: This allele was generated, along with Hnf4tm1.1Gonz, by breeding mice carrying Hnf4tm1Gonz with transgenic mice expressing cre recombinase via the EIIa promoter. Expression of cre resulted in the excision of exons 4 and 5 as well as the floxed neomycin cassette. Northern blot and RT-PCR analyses identified a truncated transcript. Sequence analysis showed that the deletion intoduced a frameshift mutation via the splicing of exons 3 and 6. Western blot analysis confirmed the presence of a shortened peptide, putatively lacking several functional domains, including the A and T boxes, the ligand-binding domain, and the activation function 2 domain. (J:67396)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hnf4a Mutation:	27 strains or lines available

Original:	J:67396 Hayhurst GP, et al., Hepatocyte nuclear factor 4alpha (nuclear receptor 2A1) is essential for maintenance of hepatic gene expression and lipid homeostasis. Mol Cell Biol. 2001 Feb;21(4):1393-403
All:	6 reference(s)