Mouse Genome Informatics
hm
    Grhl1tm1Jane/Grhl1tm1Jane
involves: BALB/cJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size/body
• similar in size at birth and at 2 months of age but significantly smaller than littermate controls at weaning

cardiovascular system
N
• unlike human patients with striate palmoplantar keratoderma disorder, no evidence of cardiomyopathy is detected (J:133318)

integument
• over 30% of mice lack hair at weaning with the remainder having sparse coats
• extensive regional hair loss is seen when mice are housed with other mice with regrowth when mice are housed alone
• despite the thinner coat, in a tape-stripping test more hairs are removed compared to wild-type controls
• delay in coat growth that may be the result of maternal grooming
• over 30% of mice lack hair at weaning with the remainder having sparse coats
• coat remains sparse throughout life
• sections of skin from hypotrichotic regions contain empty cysts in telogen follicles
• cleft between the inner and outer root sheath
• depilated hairs have a naked anagen bulb lacking the inner and outer root sheath
• fewer desmosomes are identified in the interfolicular epidermis and unlike in wild-type mice, this number is further reduced after EGTA treatment
• marked thickening of the stratum corneum on the palmoplantar surfaces of the paws

Mouse Models of Human Disease
OMIM IDRef(s)
Loose Anagen Hair Syndrome 600628 J:133318
Palmoplantar Keratoderma I, Striate, Focal, or Diffuse; PPKS1 148700 J:133318