Hoxd13^spdh
Spontaneous Allele Detail

Summary

• Symbol: Hoxd13^spdh
• Name: homeobox D13; synpolydactyly homolog
• MGI ID: MGI:1857397
• Gene: Hoxd13 Location: Chr2:74498654-74501943 bp, + strand Genetic Position: Chr2, 44.13 cM
• Alliance: Hoxd13^spdh page

Mutation origin

• Strain of Origin: B6C3Fe a/a-Csf1^op/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: 21 bp in-frame duplication within a polyalanine-encoding region at the 5'-end of the Hoxd13 coding sequence. This duplication expands the stretch of alanines from 15 to 22, the same type of expansion that occurs in human synpolydactyly mutations. (J:47974)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	152 assay results
In Structures Affected by this Mutation:	11 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 Hoxd13 Mutation: 24 strains or lines available

References

• Original: J:47974 Johnson KR, et al., A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet. 1998 Jun;7(6):1033-8
• All: 7 reference(s)