Phenotypes associated with this allele

• Allele Symbol: Krt1^Mhdadsk12
• Allele Name: Martin Hrabe de Angelis dark skin 12
• Allele ID: MGI:3655853
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Krt1^Mhdadsk12/Krt1^Mhdadsk12	C3HeB/FeJ-Krt1^Mhdadsk12	MGI:3655855
ht2	Krt1^Mhdadsk12/Krt1^+	C3HeB/FeJ-Krt1^Mhdadsk12	MGI:3655854

Genotype
MGI:3655855

hm1

• Allelic Composition: Krt1^Mhdadsk12/Krt1^Mhdadsk12
• Genetic Background: C3HeB/FeJ-Krt1^Mhdadsk12

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

mortality/aging

postnatal lethality, complete penetrance ( J:108758 )

• no homozygous mice survive to weaning age

homeostasis/metabolism

dehydration ( J:108758 )

• animals with severe blistering appear dehydrated

integument

epidermal desquamation ( J:108758 )

• vaired from small skin erosions to widespread desquamation in others

blistering ( J:108758 )

• more severe blistering than heterozygotes at birth

Genotype
MGI:3655854

ht2

• Allelic Composition: Krt1^Mhdadsk12/Krt1⁺
• Genetic Background: C3HeB/FeJ-Krt1^Mhdadsk12

pigmentation

abnormal skin pigmentation ( J:108758 )

• increased epidermal pigment in the tips of the rete ridges and within the eccrine ducts

hyperpigmentation ( J:108758 )

• excessive pigmentation in heterozygous animals, most notably in volar pads, intervolar pad scales, and the digit tips

integument

hyperkeratosis ( J:108758 )

• observed in footpads

• thick, brown hyperkeratotic plaques are seen on the footpads of adults

acanthosis ( J:108758 )

• observed in footpads

blistering ( J:108758 )

• immediately after birth, animals develop blisters and erosions at the sites of friction

• this phenotype diminishes with the onset of hair growth

scaly skin ( J:108758 )

• by two weeks of age, blistering and erosions are replaced by scaling

abnormal skin pigmentation ( J:108758 )

• increased epidermal pigment in the tips of the rete ridges and within the eccrine ducts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolytic hyperkeratosis		DOID:4603	OMIM:PS113800	J:108758