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| Nomenclature |
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Symbol:
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Gfra1tm2Jmi
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Name:
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glial cell line derived neurotrophic factor family receptor alpha 1;
targeted mutation 2, Jeffrey Milbrandt
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MGI ID: |
MGI:3715156 |
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Synonyms: |
Gfra1flox |
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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:122607
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: A floxed Gfra1 cDNA-SV40-polyA with a GFP-polyA and a FRTed Tn5 neo was introduced into exon 2, deleting 95 nucleotides containing the 5' UTR, the initiator Met and the signal sequences. Expression of the endogenous gene was abolished, however, the inserted gene was expressed. Crossing with mice expressing FLP recombinase removed the neo. (J:122607)
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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)
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| References |
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Original: |
J:122607
Uesaka T et al.,
"Conditional ablation of GFRalpha1 in postmigratory enteric neurons triggers unconventional neuronal death in the colon and causes a Hirschsprung's disease phenotype."
Development 2007 Jun;134(11):2171-81
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All: |
4 reference(s)
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Analysis Tools
