Hnf1a^tm1Mya
Targeted Allele Detail

Summary

• Symbol: Hnf1a^tm1Mya
• Name: HNF1 homeobox A; targeted mutation 1, Moshe Yaniv
• MGI ID: MGI:2154359
• Synonyms: HNF1^-
• Gene: Hnf1a Location: Chr5:115087039-115109121 bp, - strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Hnf1a^tm1Mya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:31627
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A cassette containing nls-lacZ and neo was inserted at the start codon, resulting in the deletion of sequence encoding 108 residues comprising the entire dimerization domain and a portion of the B domain, as well as the majority of intron 1. Expression of beta-galactosidase was observed via Xgal staining. (J:31627)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Hnf1a Mutation: 29 strains or lines available

Notes

ES cell line = CK11
Phenotypic Similarity to Human Syndrome: Fanconi Renotubular Syndrome (J:31627)

References

• Original: J:31627 Pontoglio M, et al., Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. 1996 Feb 23;84(4):575-85
• All: 10 reference(s)