Sharpin^cpdm
Spontaneous Allele Detail

Summary

• Symbol: Sharpin^cpdm
• 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: Sharpin^cpdm page

Mutation origin

• Strain of Origin: C57BL/Ka

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 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

Disease models

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 Sharpin^cpdm

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: 61 reference(s)