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| Nomenclature |
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Symbol:
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Hnf1atm1Mya
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Name:
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HNF1 homeobox A;
targeted mutation 1, Moshe Yaniv
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MGI ID: |
MGI:2154359 |
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Synonyms: |
HNF1- |
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Gene:
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Hnf1a
Location:
Chr5:114948361-114971067 bp, - strand
Genetic Position: Chr5,
55.99 cM, cytoband F
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:31627
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hnf1a Mutation:
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7 strains or lines available |
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Notes |
ES cell line = CK11
Phenotypic Similarity to Human Syndrome: Fanconi Renotubular Syndrome (J:31627)
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
