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| Nomenclature |
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Symbol:
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Hoxd13spdh
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Name:
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homeobox D13;
synpolydactyly homolog
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MGI ID: |
MGI:1857397 |
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Gene:
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Hoxd13
Location:
Chr2:74668310-74671599 bp, + strand
Genetic Position: Chr2,
44.13 cM
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Mutation
origin |
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Strain of Origin:
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B6C3Fe a/a-Csf1op/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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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.
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
6 reference(s)
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Analysis Tools
