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Gfra1tm1Jmi
Targeted Allele Detail
Nomenclature
Symbol: Gfra1tm1Jmi
Name: glial cell line derived neurotrophic factor family receptor alpha 1; targeted mutation 1, Jeffrey Milbrandt
MGI ID: MGI:1926439
Synonyms: Gfra1-, GFRalpha-1-, GFRalpha1-
Gene: Gfra1  Location: Chr19:58235604-58455909 bp, - strand  Genetic Position: Chr19, 54.18 cM, cytoband D2-D3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:49471
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsReplacement 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
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 Gfra1 Mutation:  3 strains or lines available
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)

References
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
All:  13 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
07/21/2015
MGI 5.22
The Jackson Laboratory