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

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Sharpin^cpdm/Sharpin^cpdm	C57BL/KaLawRij-Sharpin^cpdm
hm2	Sharpin^cpdm/Sharpin^cpdm	involves: C57BL/KaLawRij * CAST/EiJ
hm3	Sharpin^cpdm/Sharpin^cpdm	involves: C57BL/KaLawRij * FVB/NJ
cx4	Sharpin^cpdm/Sharpin^cpdm Tg(RP24-173I23)1Sun/0	involves: C57BL/KaLawRij * FVB/NJ

Phenotypes:

Affected Systems	hm1		hm2	hm3	cx4
show or hide all annotated terms Sex:
cardiovascular system	√	√
abnormal angiogenesis	√	√
cellular	√	√
increased keratinocyte apoptosis	√	√
increased keratinocyte proliferation	√	√
craniofacial	√	√
abnormal tongue squamous epithelium morphology	√	√
digestive/alimentary system	√	√
abnormal tongue squamous epithelium morphology	√	√
abnormal esophageal epithelium morphology	√	√
abnormal stomach epithelium morphology	√	√
esophageal inflammation	√	√
stomach inflammation	√	√
growth/size/body	√	√
abnormal tongue squamous epithelium morphology	√	√
weight loss	√	√
postnatal growth retardation	√	√
enlarged spleen	√	√
hematopoietic system	√	√		√
extramedullary hematopoiesis	√	√
increased bone marrow cell number	√	√
increased eosinophil cell number	√	√
cutaneous mastocytosis	√	√
decreased B cell number	√	√
decreased T cell number	√	√
decreased CD4-positive, alpha-beta T cell number	√	√
abnormal spleen morphology	√	√
enlarged spleen	√	√
abnormal spleen white pulp morphology	√	√
absent spleen B cell follicles	√	√		√
absent spleen germinal center	√	√		√
absent spleen marginal zone	√	√
increased IgM level	√	√
decreased immunoglobulin level	√	√
decreased IgA level	√	√
decreased IgE level	√	√
decreased IgG level	√	√
homeostasis/metabolism	√	√
skin edema	√	√
immune system	√	√		√
esophageal inflammation	√	√
stomach inflammation	√	√
increased eosinophil cell number	√	√
cutaneous mastocytosis	√	√
decreased B cell number	√	√
decreased T cell number	√	√
decreased CD4-positive, alpha-beta T cell number	√	√
abnormal immune system organ morphology	√	√
abnormal spleen morphology	√	√
enlarged spleen	√	√
abnormal spleen white pulp morphology	√	√
absent spleen B cell follicles	√	√		√
absent spleen germinal center	√	√		√
absent spleen marginal zone	√	√
absent Peyer's patches	√	√		√
abnormal lymph node morphology	√	√
abnormal mesenteric lymph node morphology	√	√
abnormal peripheral lymph node morphology	√	√
large lymphoid organs	√	√
abnormal humoral immune response	√	√
increased IgM level	√	√
decreased immunoglobulin level	√	√
decreased IgA level	√	√
decreased IgE level	√	√
decreased IgG level	√	√
lymph node inflammation	√	√
folliculitis	√	√
joint inflammation	√	√
lung inflammation	√	√
skin inflammation				√
dermatitis	√	√
integument	√	√	√	√
increased keratinocyte apoptosis	√	√
increased keratinocyte proliferation	√	√
skin edema	√	√
skin inflammation				√
dermatitis	√	√
abnormal coat appearance	√	√
alopecia	√	√	√
premature hair loss	√	√
abnormal hair shaft morphology	√	√
abnormal hair follicle morphology	√	√
folliculitis	√	√
abnormal dermal layer morphology	√	√
mixed cellular infiltration to dermis	√	√
abnormal epidermal layer morphology	√	√
abnormal epidermis stratum basale morphology	√	√
thick epidermis stratum basale	√	√
abnormal epidermis stratum corneum morphology	√	√
hyperkeratosis	√	√
parakeratosis	√	√
abnormal epidermis stratum granulosum morphology	√	√
acanthosis	√	√
epidermal hyperplasia	√	√
thick epidermis	√	√
reddish skin	√	√
scaly skin	√	√	√
skin lesions	√	√
increased pruritus	√	√
liver/biliary system	√	√
abnormal liver morphology	√	√
reproductive system	√	√
female infertility	√
reduced male fertility		√
respiratory system	√	√
lung inflammation	√	√
abnormal lung interstitium morphology	√	√
skeleton	√	√
joint inflammation	√	√
abnormal synovial joint capsule morphology	√	√
vision/eye	√	√
thick eyelids	√	√
normal phenotype					√
no abnormal phenotype detected					√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
atopic dermatitis IDs atopic dermatitis       DOID:3310 EFO:0000274 ICD10CM:L20 MESH:D003876 OMIM:603165 OMIM:PS603165 UMLS_CUI:C0011615 Close	√

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)