All Phenotypes Cryab<tm1.1Ady> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Cryab^tm1.1Ady
targeted mutation 1.1, Usha P Andley
MGI:4999580

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cryab^tm1.1Ady/Cryab^tm1.1Ady	involves: 129X1/SvJ * C57BL/6	MGI:5571860
hm2	Cryab^tm1.1Ady/Cryab^tm1.1Ady	involves: 129X1/SvJ * C57BL/6 * C57BL/6J	MGI:4999583
ht3	Cryab^tm1.1Ady/Cryab⁺	involves: 129X1/SvJ * C57BL/6	MGI:5571859
ht4	Cryab^tm1.1Ady/Cryab⁺	involves: 129X1/SvJ * C57BL/6 * C57BL/6J	MGI:4999584

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cryab^tm1.1Ady mutation (0 available); any Cryab mutation (13 available)

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

homeostasis/metabolism

abnormal reticulophagy ( J:210399 )

• swelling of the endoplasmic reticulum in lens epithelial cells may indicate autophagy without complete lysosomal degradation, however autophagosome formation and sequestration of organelles within the autophagosome appear to occur normally

vision/eye

abnormal lens epithelium morphology ( J:210399 )

• lens epithelial cells have larger autophagosomes and many contain mitochondria

• swelling of the endoplasmic reticulum in lens epithelial cells

abnormal lens fiber morphology ( J:210399 )

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

cataract ( J:210399 )

cellular

abnormal reticulophagy ( J:210399 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 16 multiple types		DOID:0110250	OMIM:613763	J:210399

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cryab^tm1.1Ady mutation (0 available); any Cryab mutation (13 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cryab^tm1.1Ady mutation (0 available); any Cryab mutation (13 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cryab^tm1.1Ady mutation (0 available); any Cryab mutation (13 available)

♀	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

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)
myofibrillar myopathy 2		DOID:0080093	OMIM:608810	J:171679

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