Phenotypes associated with this allele

• Allele Symbol: Casq1^{Gt(OST82566)Lex}
• Allele Name: gene trap OST82566, Lexicon Genetics
• Allele ID: MGI:3530841
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Casq1^Gt(OST82566)Lex/Casq1^Gt(OST82566)Lex	involves: 129S5/SvEvBrd * C57BL/6	MGI:3815108

Genotype
MGI:3815108

hm1

• Allelic Composition: Casq1^{Gt(OST82566)Lex}/Casq1^{Gt(OST82566)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

growth/size/body

decreased body weight ( J:140828 )

• body weight of 4-6 month old mice is 10% lower compared to controls

muscle

abnormal sarcomere morphology ( J:140828 )

• in muscle fibers the T-tubules often change direction forming calcium release units (CRUs) that are more variably orientated

• the density of calcium release channels is almost double that of wild-type mice

abnormal sarcoplasmic reticulum morphology ( J:140828 )

• the mean junctional SR width in these mice is decreased by more than half in both the EDL and soleus muscles

• there is a proliferation of SR vesicles in the muscle fibers leading to no net change in total SR volume

abnormal skeletal muscle fiber morphology ( J:140828 )

• muscle fibers of EDL muscle have about twice the number of mitochondria compared to controls

muscular atrophy ( J:140828 )

• the mean weight and muscle/body weight ratios of predominately fast-twitch muscle is significantly lower than wild-type mice of the same age and sex

• mean EDL muscle mass is 7.5 mg compared to 9.3 mg in wild-type mice

• however, there is no differences in weight of the soleus muscle

abnormal muscle physiology ( J:140828 )

• EDL muscle is fatigue resistant with 100% higher force generated after two minutes of continuous stimulation than in wild-type controls

impaired skeletal muscle contractility ( J:140828 )

• twitch/tetanus ratio is significantly higher in EDL muscles than in controls

• this change is reflected in a significant prolongation of both time to peak tension and time to half relaxation in EDL muscle

abnormal muscle electrophysiology ( J:140828 )

• there is a strong reduction in Ca²⁺ transient amplitudes induced by a single electrical stimulation in extensor digitorum longus (EDL) muscle fibers

• the amount of releasable calcium in fast twitch muscle fibers at maximal doses of caffeine is also significantly reduced in knockout mice

impaired muscle relaxation ( J:140828 )

• there is a increase in the time to half-relaxation in EDL muscle