Phenotypes Associated with This Genotype

Genotype
MGI:3779101

• Allelic Composition: Grhl1^tm1Jane/Grhl1^tm1Jane
• Genetic Background: involves: BALB/cJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

postnatal growth retardation ( J:133318 )

• similar in size at birth and at 2 months of age but significantly smaller than littermate controls at weaning

cardiovascular system

cardiovascular system phenotype ( J:133318 )

N • unlike human patients with striate palmoplantar keratoderma disorder, no evidence of cardiomyopathy is detected

integument

alopecia ( J:133318 )

• 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

delayed hair appearance ( J:133318 )

• delay in coat growth that may be the result of maternal grooming

sparse hair ( J:133318 )

• over 30% of mice lack hair at weaning with the remainder having sparse coats

• coat remains sparse throughout life

abnormal hair follicle morphology ( J:133318 )

• 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

abnormal epidermal layer morphology ( J:133318 )

• fewer desmosomes are identified in the interfolicular epidermis and unlike in wild-type mice, this number is further reduced after EGTA treatment

hyperkeratosis ( J:133318 )

• marked thickening of the stratum corneum on the palmoplantar surfaces of the paws