Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fgfr1Eask Name: fibroblast growth factor receptor 1; ear askew MGI ID: MGI:3836281 Gene: Fgfr1  Location: Chr8:26008808-26067819 bp, + strand  Genetic Position: Chr8, 14.12 cM Alliance: Fgfr1Eask page

Abnormal ear position and shape in Fgfr1Eask/Fgfr1+ mice (right) and wild-type littermates (left) Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

BALB/cByJ-Agtpbp1pcd-3J/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: This spontaneous point mutation is a C-to-G transversion at position 25,557,813 (GRCm38) that results in an asparagine to lysine substitution at amino acid 147 (p.N147K). (J:179274, J:222308) Inheritance:    Dominant

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	221 strains or lines available

Original:	J:179274 Kane C, et al., An ear pinna mutation in Fgfr1. MGI Direct Data Submission. 2012;
All:	3 reference(s)