RGD Reference Report - Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. - Rat Genome Database

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Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat.

Authors: Bazzi, Hisham  Kljuic, Ana  Christiano, Angela M  Christiano, Angela M  Panteleyev, Andrey A 
Citation: Bazzi H, etal., Differentiation. 2004 Oct;72(8):450-64. doi: 10.1111/j.1432-0436.2004.07208010.x.
RGD ID: 150521560
Pubmed: PMID:15606503   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1432-0436.2004.07208010.x   (Journal Full-text)

The Iffa Credo (IC) "hairless" rat is an autosomal recessive hypotrichotic animal model actively used in pharmacological and dermatological studies. Although the molecular basis of the IC rat phenotype was never defined, the designation "hr/hr" (hairless) has been used for this rat mutation. Despite the observation that IC rats share many phenotypic similarities with Charles River (CR) 'hairless rats', crossbreeding between CR and IC rats indicated that these mutations are not allelic, and moreover, genetic analysis of both CR and IC hairless mutant rats showed no mutations in the hr gene. Here, we present a detailed analysis of the skin phenotype in the IC rat. While the initial stages of hair follicle (HF) morphogenesis reveal no significant abnormalities, the subsequent processes of inner root sheath and hair shaft formation are severely disturbed due to impaired proliferation in the hair matrix and abnormal differentiation in the precortex zone. This results in significant reduction of hair bulb volume, and the formation of dysmorphic "blebbed" hair shafts lacking medullar structure and resembling "lanceolate" hairs. Based on the presence of lance-head hairs typical of rodent lanceolate mutants, we performed molecular analysis of the desmoglein 4 gene and found a large intragenic deletion encompassing nine exons of the gene. This finding, together with specific morphological features of skin and hairs, confirms that the IC rat is allelic with the lanceolate hair (lah) mutations in mice and rats. Our results elucidate the genetic and morphological basis of the IC rat mutation, thus providing a new model to study molecular mechanisms of hair growth control.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DSG4Humanhypotrichosis  ISODsg4 (Rattus norvegicus) RGD 
Dsg4Rathypotrichosis  IMP  RGD 
Dsg4Mousehypotrichosis  ISODsg4 (Rattus norvegicus) RGD 
Dsg4hrRathypotrichosis  IMP  RGD 
OFA(SD)-Dsg4hr/CrlRathypotrichosis  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dsg4Ratalopecia  IMP  RGD 
Dsg4hrRatalopecia  IMP  RGD 
OFA(SD)-Dsg4hr/CrlRatalopecia  IMP  RGD 
Objects Annotated

Genes (Rattus norvegicus)
Dsg4  (desmoglein 4)
Dsg4hr  (desmoglein 4; hairless mutant)

Genes (Mus musculus)
Dsg4  (desmoglein 4)

Genes (Homo sapiens)
DSG4  (desmoglein 4)

Strains
OFA(SD)-Dsg4hr/Crl  (NA)


Additional Information