Phenotypes Associated with This Genotype

Genotype
MGI:5754489

• Allelic Composition: Lmna^tm11Lgf/Lmna⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:220988 )

• mice show sporadic death beginning at 3-4 months of age, with 50% dying by 5.5 months of age and some surviving to 11-12 months

growth/size/body

weight loss ( J:220988 )

• majority of mice lose about 20% of their body weight by 5-6 months of age

digestive/alimentary system

abnormal esophageal squamous epithelium morphology ( J:220988 )

• esophagus shows a cornified squamous epithelium

abnormal esophageal smooth muscle morphology ( J:220988 )

• esophagus appears yellow, reflecting reduced amounts of muscle within the muscularis externa

• esophagus shows thinning of the inner circular and outer longitudinal layers of the muscularis external, pathology similar to achalasia

dilated esophagus ( J:220988 )

• by 4 months of age, all mice show a dilated esophagus that often contains food

abnormal interstitial cell of Cajal morphology ( J:220988 )

• marker analysis indicates a decrease in the interstitial cells of Cajal in the gastrointestinal tract

distended cecum ( J:220988 )

abnormal colon morphology ( J:220988 )

• dilated proximal colon

esophageal achalasia ( J:220988 )

• esophagus shows thinning of the inner circular and outer longitudinal layers of the muscularis external, pathology similar to achalasia

muscle

abnormal esophageal smooth muscle morphology ( J:220988 )

• esophagus appears yellow, reflecting reduced amounts of muscle within the muscularis externa

• esophagus shows thinning of the inner circular and outer longitudinal layers of the muscularis external, pathology similar to achalasia

esophageal achalasia ( J:220988 )

• esophagus shows thinning of the inner circular and outer longitudinal layers of the muscularis external, pathology similar to achalasia

nervous system

nervous system phenotype ( J:220988 )

N • cerebral cortex appears normal and mice show no obvious pathology in the brain at 5 months of age

abnormal enteric neuron morphology ( J:220988 )

• maker analysis shows few enteric neurons and nerve fibers in the esophagus or in the gastrointestinal tract

abnormal cholinergic neuron morphology ( J:220988 )

• marker analysis indicates a decrease in the level of cholinergic neurons in the esophagus

skeleton

skeleton phenotype ( J:220988 )

N • mice do not exhibit osteolytic lesions or rib fractures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achalasia		DOID:9164	OMIM:200400	J:220988