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Hoxd13spdh
Spontaneous Allele Detail
Nomenclature
Symbol: Hoxd13spdh
Name: homeobox D13; synpolydactyly homolog
MGI ID: MGI:1857397
Gene: Hoxd13  Location: Chr2:74498654-74501943 bp, + strand  Genetic Position: Chr2, 44.13 cM
Mutation
origin
Strain of Origin:  B6C3Fe a/a-Csf1op/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation details21 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
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: 122 assay results
In Structures Affected by this Mutation: 11 anatomical structures
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:  15 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)

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
11/30/2021
MGI 6.17
The Jackson Laboratory