Phenotypes Associated with This Genotype

Genotype
MGI:4417900

• Allelic Composition: Col7a1^tm1Uit/Col7a1^tm1Uit; Tg(KRT14-COL7A1*)1Shzu/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

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

mortality/aging

premature death ( J:155326 )

• most mice have a lifespan of 6 months

skeleton

carious teeth ( J:155326 )

• mice develop yellowish dental caries unlike wild-type mice

limbs/digits/tail

abnormal autopod morphology ( J:155326 )

• 2 weeks after birth, mice develop paw scaring unlike wild-type mice

syndactyly ( J:155326 )

• at 1 to 2 months

craniofacial

carious teeth ( J:155326 )

• mice develop yellowish dental caries unlike wild-type mice

growth/size/body

carious teeth ( J:155326 )

• mice develop yellowish dental caries unlike wild-type mice

postnatal growth retardation ( J:155326 )

integument

alopecia ( J:155326 )

• mild

abnormal nail morphology ( J:155326 )

blistering ( J:155326 )

• mice develop subepidermal blistering unlike wild-type mice

abnormal skin condition ( J:155326 )

• 2 weeks after birth, mice develop paw scaring unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
recessive dystrophic epidermolysis bullosa		DOID:0060642	OMIM:226600	J:155326