Phenotypes Associated with This Genotype

Genotype
MGI:6226150

• Allelic Composition: Lama2^dy-Pas/Lama2^dy-Pas
• Genetic Background: involves: non-inbred stock

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

mortality/aging

premature death ( J:102806 )

• mice do not live longer than 13 weeks

growth/size/body

decreased body size ( J:102806 )

• mice remain small

cachexia ( J:102806 )

• mice become cachectic and poorly active after weaning and become extremely weak and cachectic in the last 3 weeks of life

behavior/neurological

abnormal reflex ( J:102806 )

• when held by the tail, mice are unable to keep their posterior legs in a tonic flexion position and present repetitive jerking movements of flexion and extension

abnormal gait ( J:102806 )

• within 3 weeks, mice start waddling and eventually develop contractures, joint deformities and weakness

• posterior legs become immobilized and mice drag themselves

• anterior legs are affected such that mice support themselves on their elbows

decreased locomotor activity ( J:102806 )

• by 2 weeks of age, mice are less active than controls

abnormal sexual interaction ( J:102806 )

• spontaneous breeding of homozygotes was not obtained

muscle

abnormal skeletal muscle morphology ( J:102806 )

• peri- and endomysial connective tissue proliferation is seen between individual muscle fibers

increased variability of skeletal muscle fiber size ( J:102806 )

• muscle shows variation in fiber size

centrally nucleated skeletal muscle fibers ( J:102806 )

skeletal muscle fiber necrosis ( J:102806 )

dystrophic muscle ( J:102806 )

• mice eventually develop weakness and lose mobility control

respiratory system

tachypnea ( J:102806 )

• mice present polypnea in the last 3 weeks of life

skeleton

kyphoscoliosis ( J:102806 )

• mice develop kyphoscoliosis

abnormal joint morphology ( J:102806 )

• mice eventually develop joint deformities

joint contracture ( J:102806 )

• mice eventually develop contractures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital merosin-deficient muscular dystrophy 1A		DOID:0110636	OMIM:607855	J:102806