Hoxd13<spdh> Spontaneous Allele Detail MGI Mouse (MGI:1857397)

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Hoxd13^spdh
Spontaneous Allele Detail

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

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

Phenotypes

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

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)

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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