Phenotypes associated with this allele

• Allele Symbol: Col7a1^tm1Uit
• Allele Name: targeted mutation 1, Jouni Uitto
• Allele ID: MGI:2154650
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col7a1^tm1Uit/Col7a1^tm1Uit	involves: 129S1/Sv	MGI:4417895
hm2	Col7a1^tm1Uit/Col7a1^tm1Uit	involves: 129S1/Sv * C57BL/6J	MGI:3037979
cx3	Col7a1^tm1Uit/Col7a1^tm1Uit Tg(KRT14-COL7A1)1Shzu/0	involves: 129S1/Sv * C57BL/6 * DBA/2	MGI:4417897
cx4	Col7a1^tm1Uit/Col7a1^tm1Uit Tg(Col1a2-COL7A1)1Shzu/0	involves: 129S1/Sv * C57BL/6 * DBA/2	MGI:4417898
cx5	Col7a1^tm1Uit/Col7a1^tm1Uit Tg(CMV-COL7A1)1Shzu/0	involves: 129S1/Sv * C57BL/6 * DBA/2	MGI:4417899
cx6	Col7a1^tm1Uit/Col7a1^tm1Uit Tg(KRT14-COL7A1*)1Shzu/0	involves: 129S1/Sv * C57BL/6 * DBA/2	MGI:4417900

Genotype
MGI:4417895

hm1

• Allelic Composition: Col7a1^tm1Uit/Col7a1^tm1Uit
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

postnatal lethality, complete penetrance ( J:155326 )

• mice die within a few days of birth

integument

dermal-epidermal separation ( J:155326 )

• mice exhibit separation of the dermis and epidermis unlike in 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

Genotype
MGI:3037979

hm2

• Allelic Composition: Col7a1^tm1Uit/Col7a1^tm1Uit
• Genetic Background: involves: 129S1/Sv * C57BL/6J

mortality/aging

postnatal lethality, complete penetrance ( J:58533 )

• most affected homozygous mutant mice die within the first postnatal week from complications of blistering

• only a few mutant animals survive beyond the first week of life; one mutant survived past 3 weeks, requiring extensive supportive care

integument

abnormal dermal layer morphology ( J:58533 )

• histopathologically, the perilesional ventral skin in mutants shows tissue cleavage at the dermal-epidermal junction; notably, the blister-free dorsal skin also displays focal dermal-epidermal tissue separation

• transmission electron microscopy confirmed that blister formation occurs in the sub-lamina densa area at the dermal side of the cutaneous basement membrane zone, the lamina densa being intact in the roof of the blister

• electron microscopy of non-blistered skin demonstrated absence of anchoring fibrils, which are readily detectable in both wild-type and heterozygous mutant mice

blistering ( J:58533 )

• homozygous mutant mice show a striking blistering phenotype at birth or shortly thereafter

• in homozygotes, large blisters develop primarily on the ventral side, often extending to cover the extremities; the dorsal side develops blisters less frequently

• older homozygous mutant pups display erosions on their feet and blistering of the mucous membranes of the oral cavity

• those few animals surviving beyond the first week of life show normal hair growth, which appears to coincide with lessening of the blistering tendency in the skin; these mice continue to develop oral blisters, and eventually most of them die before the age of 2 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
recessive dystrophic epidermolysis bullosa		DOID:0060642	OMIM:226600	J:58533

Genotype
MGI:4417897

cx3

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

mortality/aging

mortality/aging ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice survive to reproduce

integument

integument phenotype ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype

Genotype
MGI:4417898

cx4

• Allelic Composition: Col7a1^tm1Uit/Col7a1^tm1Uit; Tg(Col1a2-COL7A1)1Shzu/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * DBA/2

mortality/aging

mortality/aging ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice survive to reproduce

integument

integument phenotype ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype

Genotype
MGI:4417899

cx5

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

mortality/aging

mortality/aging ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice survive to reproduce

integument

integument phenotype ( J:155326 )

N • unlike Col7a1^tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype

Genotype
MGI:4417900

cx6

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

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