Phenotypes associated with this allele

• Allele Symbol: Lamc2^tm1Uit
• Allele Name: targeted mutation 1, Jouni Uitto
• Allele ID: MGI:2679597
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lamc2^tm1Uit/Lamc2^tm1Uit	involves: C57BL/6	MGI:2679609
ht2	Lamc2^jeb/Lamc2^tm1Uit	(129X1/SvJ-Lamc2^jeb x B6.Cg-Lamc2^tm1Uit)F1	MGI:4440828

Genotype
MGI:2679609

hm1

• Allelic Composition: Lamc2^tm1Uit/Lamc2^tm1Uit
• Genetic Background: involves: C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:85981 )

• affected animals die by about day 5 postnatally

behavior/neurological

aphagia ( J:85981 )

• by day 2, milk content in stomachs begins to drop

digestive/alimentary system

abnormal digestive system morphology ( J:85981 )

• separation of tissue layers in oral mucosa

renal/urinary system

abnormal kidney morphology ( J:85981 )

abnormal urinary bladder urothelium morphology ( J:85981 )

• tissue layer separations in the epithelium

integument

abnormal skin morphology ( J:85981 )

• hypoplastic and rudimentary hemidesmosomes in the skin seen by transmission EM

• apoptosis in basal layers of skin

dermal-epidermal separation ( J:85981 )

• dermal-epidermal tissues separating

blistering ( J:85981 )

• appears within 1-2 days of birth in 90% of mice

• mostly on paws and legs

• mice lacking blistering are smaller and weaker than wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa Herlitz type		DOID:0060737	OMIM:226700	J:85981

Genotype
MGI:4440828

ht2

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

integument

dermal-epidermal separation ( J:158873 )

• dermal-epidermal separation

blistering ( J:158873 )

• develop characteristic blistering by 2 months of age