All Phenotypes Lamc2<jeb> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Lamc2^jeb
junctional epidermolysis bullosa
MGI:3609880

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lamc2^jeb/Lamc2^jeb	129X1/SvJ-Lamc2^jeb	MGI:4440827
hm2	Lamc2^jeb/Lamc2^jeb	B6.129X1-Lamc2^jeb/Dcr	MGI:5433633
ht3	Lamc2^jeb/Lamc2^tm1Uit	(129X1/SvJ-Lamc2^jeb x B6.Cg-Lamc2^tm1Uit)F1	MGI:4440828
cx4	Col17a1^em10Dcr/Col17a1^em10Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em10Dcr/Dcr	MGI:7709374
cx5	Col17a1^em13Dcr/Col17a1^em13Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em13Dcr/Dcr	MGI:7709376
cx6	Col17a1^em14Dcr/Col17a1^em14Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em14Dcr/Dcr	MGI:7709349
cx7	Col17a1^em1Dcr/Col17a1^em1Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr	MGI:7708015
cx8	Col17a1^em1Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr	MGI:7709532
cx9	Col17a1^em4Dcr/Col17a1^em4Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em4Dcr/Dcr	MGI:7709368
cx10	Col17a1^em5Dcr/Col17a1^em5Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em5Dcr/Dcr	MGI:7709369
cx11	Col17a1^em7Dcr/Col17a1^em7Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em7Dcr/Dcr	MGI:7709378
cx12	Col17a1^em8Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em8Dcr/Dcr	MGI:7709432
cx13	Col17a1^em9Dcr/Col17a1^em9Dcr Lamc2^jeb/Lamc2^jeb	B6.Cg-Lamc2^jeb Col17a1^em9Dcr/Dcr	MGI:7709371
cx14	Col17a1^em2Dcr/Col17a1^em2Dcr Lamc2^jeb/Lamc2^jeb	C57BL/6J-Col17a1^em2Dcr/Dcr	MGI:7708004
cx15	Col17a1^em2Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb	C57BL/6J-Col17a1^em2Dcr/Dcr	MGI:7709535

Allelic Composition	Lamc2^jeb/Lamc2^jeb
Genetic Background	129X1/SvJ-Lamc2^jeb

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

limbs/digits/tail

ulcerated autopod ( J:158873 )

• hyperemic footpads and ears

hearing/vestibular/ear

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

ear inflammation ( J:158873 )

• in the pinna

immune system

ear inflammation ( J:158873 )

• in the pinna

skeleton

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

decreased bone mineral content ( J:158873 )

• at 12 months of age, as mice develop skin lesions

decreased bone mineral density ( J:158873 )

• at 12 months of age, as mice develop skin lesions

craniofacial

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

respiratory system

decreased lung elastance ( J:158873 )

• decrease in resistance and/or elastance and overall lung restriction at 9 months of age

decreased airway resistance ( J:158873 )

• decrease in resistance and/or elastance and overall lung restriction at 9 months of age

respiratory distress ( J:158873 )

• dyspneic

integument

abnormal skin morphology ( J:158873 )

• rudimentary or absent hemidesmosomes in the skin by TEM

orthokeratosis ( J:158873 )

• on ears and foot pads

acanthosis ( J:158873 )

• on ears

epidermal hyperplasia ( J:158873 )

• on ears

dermal-epidermal separation ( J:158873 )

• dermal-epidermal separation in skin on the ears and tail

blistering ( J:158873 )

• subepidermal separation on tail and foot pads, with little to no dermal inflammation present

reddish skin ( J:158873 )

• hyperemic footpads, tail and ears

skin detachment ( J:158873 )

• dermal epidermal separation is adjacent to ulcerations in the dorsal thoracic skin

• subepidermal separation on tail and foot pads, with little to no dermal inflammation present

spontaneous skin ulceration ( J:158873 )

• ulcerated ears and tail

decreased skin tensile strength ( J:158873 )

• marked mechanical fragility of the skin

growth/size/body

abnormal incisor morphology ( J:158873 )

• substantial pitting by SEM

enamel pits ( J:158873 )

• substantial pitting in incisors by SEM

abnormal pinna cartilage morphology ( J:158873 )

• the auricular cartilage is severely distorted due to contracture from scarring

cellular

abnormal basal lamina morphology ( J:158873 )

• separation within the lamina lucida

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa non-Herlitz type		DOID:0060738	OMIM:226650	J:158873

Allelic Composition	Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.129X1-Lamc2^jeb/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal epidermal-dermal junction morphology ( J:186910 )

dermal-epidermal separation ( J:186910 )

• separation of the dermis from epidermis of the tail requires much less tensile strength for homozygotes at the earliest timepoint assessed, 4 weeks of age, and the requisite tensile strength decreases between 6 and 11 weeks in males and between 15 and 19 weeks in females

decreased skin tensile strength ( J:186910 )

Allelic Composition	Lamc2^jeb/Lamc2^tm1Uit
Genetic Background	(129X1/SvJ-Lamc2^jeb x B6.Cg-Lamc2^tm1Uit)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)
Lamc2^tm1Uit mutation (2 available); any Lamc2 mutation (70 available)

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

integument

dermal-epidermal separation ( J:158873 )

• dermal-epidermal separation

blistering ( J:158873 )

• develop characteristic blistering by 2 months of age

Allelic Composition	Col17a1^em10Dcr/Col17a1^em10Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em10Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em10Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal skin tensile strength ( J:352187 )

• relative to Lamc2 homozygotes these double homozygotes have slight improvement in subjective ear scores but not tail scores or skin tension assessment

Allelic Composition	Col17a1^em13Dcr/Col17a1^em13Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em13Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em13Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

decreased skin tensile strength ( J:352187 )

• The small in-frame deletion in Col17a1 does not alter the junctional epidermolysis bullosa phenotype as assessed in the tail or ear skin or in skin tension

Allelic Composition	Col17a1^em14Dcr/Col17a1^em14Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em14Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em14Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

decreased skin tensile strength ( J:352187 )

• At 10 weeks of age compared with the protective PWK/PhJ allele there is no significant difference in tail skin tensile strength but by 20 days of age the strength is found to be less than that of PWK/PhJ but more than with the pure C57BL/6J allele. The ear sores are delayed in onset relative to those on a wild type C57BL/6J background but not to the degree that the PWK/PhJ allele of Col17a1 confers.

Allelic Composition	Col17a1^em1Dcr/Col17a1^em1Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em1Dcr mutation (1 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

mortality/aging

premature death ( J:352187 )

• the majority of double homozygotes are dead by 10 weeks of age

integument

abnormal nail bed morphology ( J:352187 )

nail dystrophy ( J:352187 )

• separation in the nail bed is found in the double homozygote and requires both alleles

abnormal skin morphology ( J:352187 )

• The junctional epidermolysis bullosa phenotype of the jeb mutation has an earlier onset and more severe phenotype in addition to the novel phenotype of separation of the nail bed, which is not seen in either homozygote in the absence of the other mutation so is unique to the bigenic genotype

dermal-epidermal separation ( J:352187 )

blistering ( J:352187 )

skin detachment ( J:352187 )

decreased skin tensile strength ( J:352187 )

immune system

ear inflammation ( J:352187 )

limbs/digits/tail

ulcerated autopod ( J:352187 )

hearing/vestibular/ear

ear inflammation ( J:352187 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa		DOID:3209		J:352187

Allelic Composition	Col17a1^em1Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em1Dcr/Dcr

Find Mice

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

integument

dermal-epidermal separation ( J:352187 )

• A single copy of this intragenic deletion in Col17a1 gives an intermediate phenotype between double homozygotes and mice homozygous for only the junctional epidermolysis bullosa mutation

Allelic Composition	Col17a1^em4Dcr/Col17a1^em4Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em4Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em4Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal skin tensile strength ( J:352187 )

• This 3 amino acid deletion from the non-collagenous domain 4 of Col17a1 improves the skin tensile strength in junctional epidermolysis bullosa homozygotes compared to the C57BL/6J wild type allele

Allelic Composition	Col17a1^em5Dcr/Col17a1^em5Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em5Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em5Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal skin tensile strength ( J:352187 )

• The 5 amino acid deletion from the non-collagenous domain 4 of Col17a1 improves the skin tensile strength in junctional epidermolysis bullosa homozygotes compared to the C57BL/6J wild type allele

Allelic Composition	Col17a1^em7Dcr/Col17a1^em7Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em7Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em7Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

decreased skin tensile strength ( J:352187 )

• The small in-frame deletion in Col17a1 does not alter the junctional epidermolysis bullosa phenotype as assessed in the tail or ear skin or in skin tension

Allelic Composition	Col17a1^em8Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em8Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em8Dcr mutation (1 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

dermal-epidermal separation ( J:352187 )

decreased skin tensile strength ( J:352187 )

• disease onset is faster and more severe in the presence of one null allele of Col17a1

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa		DOID:3209		J:352187

Allelic Composition	Col17a1^em9Dcr/Col17a1^em9Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	B6.Cg-Lamc2^jeb Col17a1^em9Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em9Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal skin tensile strength ( J:352187 )

• This small in-frame deletion from the non-collagenous domain 4 of Col17a1 improves the skin tensile strength in junctional epidermolysis bullosa homozygotes compared to the C57BL/6J wild type allele

Allelic Composition	Col17a1^em2Dcr/Col17a1^em2Dcr Lamc2^jeb/Lamc2^jeb
Genetic Background	C57BL/6J-Col17a1^em2Dcr/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1^em2Dcr mutation (0 available); any Col17a1 mutation (51 available)
Lamc2^jeb mutation (4 available); any Lamc2 mutation (70 available)

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

integument

abnormal nail bed morphology ( J:352187 )

• separation in the nail bed is found in the double homozygote and requires both alleles

nail dystrophy ( J:352187 )

abnormal skin morphology ( J:352187 )

dermal-epidermal separation ( J:352187 )

blistering ( J:352187 )

skin detachment ( J:352187 )

decreased skin tensile strength ( J:352187 )

hearing/vestibular/ear

ear inflammation ( J:352187 )

mortality/aging

premature death ( J:352187 )

• death by 6 weeks of age

immune system

ear inflammation ( J:352187 )

limbs/digits/tail

ulcerated autopod ( J:352187 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa		DOID:3209		J:352187

Allelic Composition	Col17a1^em2Dcr/Col17a1⁺ Lamc2^jeb/Lamc2^jeb
Genetic Background	C57BL/6J-Col17a1^em2Dcr/Dcr

Find Mice

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

integument

dermal-epidermal separation ( J:352187 )

• A single copy of this intragenic deletion in Col17a1 gives an intermediate phenotype between double homozygotes and mice homozygous for only the junctional epidermolysis bullosa mutation

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