Phenotypes Associated with This Genotype

Genotype
MGI:4999583

• Allelic Composition: Cryab^tm1.1Ady/Cryab^tm1.1Ady
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6J

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

Eye and lens abnormalities in Cryab^tm1.1Ady/Cryab⁺ and Cryab^tm1.1Ady/Cryab^tm1.1Ady mice

vision/eye

abnormal cornea morphology ( J:171679 )

• in some mice, not bilateral

cataract ( J:171679 )

• overall in 84% of mice, beginning at 3 to 8 weeks and increasing in stage with age

small lens ( J:171679 )

• in some mice

microphthalmia ( J:171679 )

• in some mice, not bilateral

muscle

centrally nucleated skeletal muscle fibers ( J:171679 )

skeletal muscle fiber necrosis ( J:171679 )

skeletal muscle fibrosis ( J:171679 )

myopathy ( J:171679 )

• by 10 months, muscles exhibit dark basophilic fibers, internal nuclei, scattered necrosis, and fibrosis with alphabeta-crystallin inclusions unlike wild-type muscles

behavior/neurological

decreased grip strength ( J:171679 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myofibrillar myopathy 2		DOID:0080093	OMIM:608810	J:171679