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Hnf1atm1Mya
Targeted Allele Detail
Nomenclature
Symbol: Hnf1atm1Mya
Name: HNF1 homeobox A; targeted mutation 1, Moshe Yaniv
MGI ID: MGI:2154359
Synonyms: HNF1-
Gene: Hnf1a  Location: Chr5:114948980-114971094 bp, - strand  Genetic Position: Chr5, 55.99 cM, cytoband F
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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:  18 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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory