Phenotypes associated with this allele

• Allele Symbol: Lama3^tm1Crt
• Allele Name: targeted mutation 1, William G Carter
• Allele ID: MGI:2154553
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lama3^tm1Crt/Lama3^tm1Crt	involves: 129 * C57BL/6J	MGI:3042129

Genotype
MGI:3042129

hm1

• Allelic Composition: Lama3^tm1Crt/Lama3^tm1Crt
• Genetic Background: involves: 129 * C57BL/6J

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

Progressive blistering and reduced milk content in the stomach of Lama3^tm1Crt/Lama3^tm1Crt mice

mortality/aging

postnatal lethality, complete penetrance ( J:55865 )

• homozygous null mice failed to thrive and died 2-3 days after birth

craniofacial

abnormal enamel morphology ( J:55865 )

• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type

• the mutant enamel epithelium appeared disorganized and hypoplastic

abnormal ameloblast morphology ( J:55865 )

• mutant mice showed normal incisor development until the onset of enamel secretion

• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated

• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation

digestive/alimentary system

small stomach ( J:55865 )

• mutant mice displayed a reduced stomach size and milk content; however, no gastric obstruction was observed

growth/size/body

abnormal enamel morphology ( J:55865 )

• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type

• the mutant enamel epithelium appeared disorganized and hypoplastic

abnormal ameloblast morphology ( J:55865 )

• mutant mice showed normal incisor development until the onset of enamel secretion

• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated

• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation

decreased body weight ( J:55865 )

• mutant mice weighed 40-50% less than wild-type littermates

integument

abnormal epidermal layer morphology ( J:55865 )

• in mutant skin, junctional blisters were caused by a separation at the dermal-epidermal junction

abnormal epidermis stratum basale morphology ( J:55865 )

• basal cells appeared flattened and sparse

• electron microscopy revealed a complete absence of hemidesmosomes in some regions of the basal cells; hemidesmosomes appeared more diffuse and less well-defined

disorganized suprabasal layer ( J:55865 )

• in lesional areas, cell clusters in the superbasal cell layer appeared to remain undifferentiated

blistering ( J:55865 )

• after birth (~6-8 h), mutant mice developed progressive blistering of the forepaws, limbs, and oral mucosa

• mutant limbs and paws appeared red and bleeding, even in the absence of blistering lesions

skeleton

abnormal enamel morphology ( J:55865 )

• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type

• the mutant enamel epithelium appeared disorganized and hypoplastic

abnormal ameloblast morphology ( J:55865 )

• mutant mice showed normal incisor development until the onset of enamel secretion

• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated

• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa non-Herlitz type		DOID:0060738	OMIM:226650	J:55865