About   Help   FAQ
Sharpincpdm
Spontaneous Allele Detail
Summary
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
Mutation
origin
Strain of Origin:  C57BL/Ka
Mutation
description
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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
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
References
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
07/05/2024
MGI 6.24
The Jackson Laboratory