Fgfr1^Eask
Spontaneous Allele Detail

Summary

• Symbol: Fgfr1^Eask
• 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: Fgfr1^Eask page

Abnormal ear position and shape in Fgfr1^Eask/Fgfr1⁺ mice (right) and wild-type littermates (left)

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BALB/cByJ-Agtpbp1^pcd-3J/J

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

1 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:179274 Kane C, et al., An ear pinna mutation in Fgfr1. MGI Direct Data Submission. 2012
• All: 3 reference(s)