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Fgfr1Hspy
Chemically induced Allele Detail
Summary
Symbol: Fgfr1Hspy
Name: fibroblast growth factor receptor 1; hush puppy
MGI ID: MGI:3574787
Synonyms: DEA9
Gene: Fgfr1  Location: Chr8:26008808-26067819 bp, + strand  Genetic Position: Chr8, 14.12 cM
Alliance: Fgfr1Hspy page
E8.5 Fgfr1Hspy/Fgfr1Hspy embryos show a restriction at the embryonic/extra-embryonic boundary (arrow)

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU-mutagenesis induced a T to A transversion in exon 15 that results in the amino acid substitution of arginine for tryptophan at position 691 (W691R). Reduced transcript expression was confirmed by RT-PCR. (J:82809, J:171915)
Inheritance:    Not Specified
Identification of the mutation in Fgfr1Hspy
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 10 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Fgfr1 Mutation:  223 strains or lines available
References
Original:  J:95895 Pau H, et al., Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. Laryngoscope. 2005 Jan;115(1):116-24
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory