About   Help   FAQ
Hnf4atm1.2Gonz
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67396
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThis 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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:  28 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory