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Sharpincpdm-Dem
Spontaneous Allele Detail
Summary
Symbol: Sharpincpdm-Dem
Name: SHANK-associated RH domain interacting protein; chronic proliferative dermatitis, Peter Demant
MGI ID: MGI:2386682
Synonyms: cpdmDem
Gene: Sharpin  Location: Chr15:76231240-76235310 bp, - strand  Genetic Position: Chr15, 35.75 cM
Alliance: Sharpincpdm-Dem page
Mutation
origin
Strain of Origin:  OcB3/Dem
Mutation
description
Allele Type:    Spontaneous
Mutations:    Intragenic deletion, Single point mutation
 
Mutation detailsThis allele comprises a C-to-A transition at coding nucleotide 15 near the 5' end of exon 1 (a silent mutation that doesn't change the alanine codon at position 5), followed by a 14 bp deletion of coding nucleotides 19-32. The deletion disrupts the reading frame resulting in a premature stop codon. (J:121810)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sharpin Mutation:  25 strains or lines available
References
Original:  J:68129 Sundberg JP, et al., The chronic proliferative dermatitis mouse mutation (cpdm): mapping of the mutant gene locus. J Exp Anim Sci. 2000;41:101-8
All:  4 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
10/29/2024
MGI 6.24
The Jackson Laboratory