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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(9Hspb2-Cryab)1Wawr
deletion, Chr 9, Eric F Wawrousek 1
MGI:2652177
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr involves: 129S4/SvJae MGI:2652189
cx2
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Gfaptm2Mes/Gfap+
involves: 129S4/SvJae * 129S7/SvEvBrd MGI:3850527
cx3
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Tg(GFAP)10Mes/0
involves: 129S4/SvJae * FVB/N MGI:3850511
cx4
Del(9Hspb2-Cryab)1Wawr/+
Tg(GFAP)10Mes/0
involves: 129S4/SvJae * FVB/N MGI:3850514
cx5
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Tg(GFAP)10Mes/0
Tg(GFAP-CRYAB)141.6Mes/0
involves: 129S4/SvJae * FVB/N MGI:3850529


Genotype
MGI:2652189
hm1
Allelic
Composition
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• at 65 weeks of age, degenerated muscle is almost entirely replaced by fatty tissue in areas of the posterior tongue muscle
• only a few muscle cells remain but appear highly abnormal or vacuolated amid a field of fatty tissue
• at 65 weeks of age, mutant axial skeletal muscles display degenerative processes, including migration of nuclei into the sarcoplasm, hyalin degeneration of the sarcoplasm, vacuolization of the sarcoplasm, infiltration of macrophages, fibrosis, and fatty replacement of muscle cells
• homozygotes exhibit chronic muscular dystrophy, with only very minimal axial muscular dystrophy noted at 7 weeks of age
• by 20 weeks of age, severely dystrophic axial muscles are associated with occasional fibrosis, fatty infiltration, and myositis and include muscles of the head while the diaphragm and some hindlimb muscles (e.g. soleus) are only mildly affected
• by 40 weeks of age, axial muscular dystrophy is more severe, fibrosis and fatty infiltrates are pronounced, and muscles of the head exhibit degeneration while the soleus muscle is still moderately affected
• at all ages, the most severely affected muscle cells are generally located adjacent to bone or at tendinous insertions and less frequently deep within muscle bundles
• at 65 weeks of age, hunched homozygotes show severe degeneration of some skeletal muscles, including the muscles of posterior tongue, head (particularly those of the hyoid apparatus), and surrounding the axial skeleton
• at this age, limb muscles are affected to a lesser extent while the heart muscle appears normal
• aging homozygotes exhibit progressive muscle weakness in the tongue, head regions, and muscles associated with the axial skeleton

skeleton
• hunched homozygotes exhibit accelerated degenerative osteoarthritis of the intervertebral facet joints
• at 12 months of age, homozygotes display a severe curvature of the spine (anterior kyphosis) and emaciation

growth/size/body
• at 65 weeks of age, degenerated muscle is almost entirely replaced by fatty tissue in areas of the posterior tongue muscle
• only a few muscle cells remain but appear highly abnormal or vacuolated amid a field of fatty tissue
• homozygotes consistently start losing weight after ~40 weeks of age
• in aging homozygotes, progressive loss of weight and body fat is probably due to an impaired ability to obtain nourishment as a result of muscle weakness in the tongue and head regions

behavior/neurological
• at 40 weeks of age, homozygotes begin to display a hunched posture due to kyphosis

adipose tissue
• homozygotes eventually lose most of their body fat

vision/eye
• at 11 weeks of age, homozygotes show a 7% reduction in average lens mass relative to wild-type mice
• however, mutant lenses remain as transparent as wild-type lenses, with no evidence of cytoplasmic inclusion bodies in the lens nuclei, and no significant differences in histology and equatorial and axial dimensions relative to wild-type lenses
• in addition, the thermal stability of a lens homogenate supernatant is only mildly compromised, and mutant lenses show no differences in loss of lens transparency when oxidatively stressed in vivo with hyperbaric oxygen relative to wild-type lenses

immune system
• hunched homozygotes exhibit accelerated degenerative osteoarthritis of the intervertebral facet joints

craniofacial
• at 65 weeks of age, degenerated muscle is almost entirely replaced by fatty tissue in areas of the posterior tongue muscle
• only a few muscle cells remain but appear highly abnormal or vacuolated amid a field of fatty tissue

digestive/alimentary system
• at 65 weeks of age, degenerated muscle is almost entirely replaced by fatty tissue in areas of the posterior tongue muscle
• only a few muscle cells remain but appear highly abnormal or vacuolated amid a field of fatty tissue

nervous system
N
• mice exhibit normal dopaminergic neuron numbers
• in the substantia nigra
• not suppressed by quinpirole




Genotype
MGI:3850527
cx2
Allelic
Composition
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Gfaptm2Mes/Gfap+
Genetic
Background
involves: 129S4/SvJae * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(9Hspb2-Cryab)1Wawr mutation (0 available); any Del(9Hspb2-Cryab)1Wawr mutation (0 available)
Gfaptm2Mes mutation (2 available); any Gfap mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice remain viable in Cryab-null background in contrast to Cryab-null, GFAP-overexpressing mice




Genotype
MGI:3850511
cx3
Allelic
Composition
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Tg(GFAP)10Mes/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• one third of mice null for Cryab show survival to 100 days compared to Cryab-sufficient Tg(GFAP)10Mes mice which display <10% mortality at about 30 days of age; most animals die at about 30 days of age

growth/size/body
• mice show significantly decreased body weights at 6 weeks and three months relative to wild-type

nervous system
• by 3 months of age, animals show formation of ubiquinated astrocytic protein (Rosenthal fiber) aggregates in the hippocampus (dentate gyrus and near pial surface of superior colliculus)




Genotype
MGI:3850514
cx4
Allelic
Composition
Del(9Hspb2-Cryab)1Wawr/+
Tg(GFAP)10Mes/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• two thirds of mice null for Cryab show survival to 100 days compared to Cryab-sufficient Tg(GFAP)10Mes mice which display <10% mortality at about 30 days of age; around 30% of animals die at about 30 days of age




Genotype
MGI:3850529
cx5
Allelic
Composition
Del(9Hspb2-Cryab)1Wawr/Del(9Hspb2-Cryab)1Wawr
Tg(GFAP)10Mes/0
Tg(GFAP-CRYAB)141.6Mes/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(9Hspb2-Cryab)1Wawr mutation (0 available); any Del(9Hspb2-Cryab)1Wawr mutation (0 available)
Tg(GFAP)10Mes mutation (0 available)
Tg(GFAP-CRYAB)141.6Mes mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• majority of animals (about 90%) survive to 3 months of age

growth/size/body
N
• mice show significantly increased body weights at 6 weeks and three months relative to Tg(GFAP)10Mes and Tg(GFAP)10/Tg(GFAP-Cryab)141.6Mes Cryab-null animals; weights are comparable to wild-type

nervous system
• Rosenthal fibers which outline astrocytic processes are present in mutants





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory