Mmp14^sabe
Spontaneous Allele Detail

Summary

• Symbol: Mmp14^sabe
• Name: matrix metallopeptidase 14 (membrane-inserted); small and bugged-eyed
• MGI ID: MGI:3763359
• Gene: Mmp14 Location: Chr14:54669055-54679913 bp, + strand Genetic Position: Chr14, 27.79 cM
• Alliance: Mmp14^sabe page

Mmp14^sabe/Mmp14^sabe mouse (right) is small and short-nosed

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

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A C to T transition in Chromosome 14 bapse pair 54,436,154 (GRCm38) is predicted to cause a p.R92C mutation directly adjacent to a critical cysteine in the cysteine switch regulatory domain. (J:127164, J:223062)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

6 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 Mmp14 Mutation: 44 strains or lines available

References

• Original: J:127164 Curtain MM, et al., A possible new mutation to Mmp 14. MGI Direct Data Submission. 2007
• All: 2 reference(s)