Phenotypes associated with this allele

• Allele Symbol: Cryab⁺
• Allele Name: wild type
• Allele ID: MGI:2430305
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cryab^tm1.1Ady/Cryab^+	involves: 129X1/SvJ * C57BL/6	MGI:5571859
ht2	Cryab^tm1.1Ady/Cryab^+	involves: 129X1/SvJ * C57BL/6 * C57BL/6J	MGI:4999584

Genotype
MGI:5571859

ht1

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

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

vision/eye

abnormal lens fiber morphology ( J:210399 )

• the size of p62-labeled speckles in anterior lens fiber cells is increased

• the number and size of speckles in posterior lens fiber cells is increased

Genotype
MGI:4999584

ht2

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

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

disorganized secondary lens fibers ( J:171679 )

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)
adult-onset myofibrillar myopathy 2A		DOID:0080093	OMIM:608810	J:171679