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Spontaneous Allele Detail
Symbol: Sharpincpdm
Name: SHANK-associated RH domain interacting protein; chronic proliferative dermatitis
MGI ID: MGI:1856699
Synonyms: cpd, cpdm
Gene: Sharpin  Location: Chr15:76231240-76235310 bp, - strand  Genetic Position: Chr15, 35.75 cM
Alliance: Sharpincpdm page
Strain of Origin:  C57BL/Ka
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsA single nucleotide deletion (C forward strand, G reverse gene strand; from sequence CCCC) in glycine codon 65 or alanine codon 66 in the 3' end of exon 1 creates a shift in the open reading frame at Ala66 (changing it to arginine) predicted to cause a premature stop codon 4 codons downstream. (J:121810)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 30 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Sharpincpdm
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 Sharpin Mutation:  25 strains or lines available
Original:  J:14539 HogenEsch H, et al., A spontaneous mutation characterized by chronic proliferative dermatitis in C57BL mice. Am J Pathol. 1993 Sep;143(3):972-82
All:  59 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
MGI 6.24
The Jackson Laboratory