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| Nomenclature |
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Symbol:
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Gfra1tm1Jmi
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Name:
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glial cell line derived neurotrophic factor family receptor alpha 1;
targeted mutation 1, Jeffrey Milbrandt
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MGI ID: |
MGI:1926439 |
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Synonyms: |
Gfra1-, GFRalpha-1-, GFRalpha1- |
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Gene:
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Gfra1
Location:
Chr19:58235604-58455909 bp, - strand
Genetic Position: Chr19,
54.18 cM, cytoband D2-D3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:49471
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Replacement of the first and second exons of Gfra1 with pGK-neomycin cassette. Absence of expression was confirmed by Northern blots on brain poly(A)+RNA.
(J:49471)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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 Gfra1 Mutation:
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3 strains or lines available |
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Notes |
Phenotypic Similarity to Human Syndrome: Hirschsprung Disease in mice heterozygous for Gfra1tm1Jmi and Gfra1tm2Jmi and hemizygous for Tg(CAG-cre/Esr1*)5Amc (J:122607)
Phenotypic Similarity to Human Syndrome: Hirschsprung Disease in mice homozygous for Gfra1tm1Jmi(J:49471)
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| References |
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Original: |
J:49471
Enomoto H et al.,
"GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys."
Neuron 1998 Aug;21(2):317-24
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All: |
12 reference(s)
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Analysis Tools
