Phenotypes associated with this allele

• Allele Symbol: Cisd2^{Gt(XS0445)Wtsi}
• Allele Name: gene trap XS0445, Wellcome Trust Sanger Institute
• Allele ID: MGI:3877354
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cisd2^Gt(XS0445)Wtsi/Cisd2^Gt(XS0445)Wtsi	B6.129P2-Cisd2^Gt(XS0445)Wtsi	MGI:5424576

Genotype
MGI:5424576

hm1

• Allelic Composition: Cisd2^{Gt(XS0445)Wtsi}/Cisd2^{Gt(XS0445)Wtsi}
• Genetic Background: B6.129P2-Cisd2^{Gt(XS0445)Wtsi}

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

behavior/neurological

lethargy ( J:183788 )

• manifests between 2 and 3 months of age

tremors ( J:183788 )

• manifests between 2 and 3 months of age

weakness ( J:183788 )

• general weakness of the animal manifests between 2 and 3 months of age

growth/size/body

decreased body weight ( J:183788 )

• low body weight manifests between 2 and 3 months of age

integument

ruffled hair ( J:183788 )

• ruffled fur manifests between 2 and 3 months of age

cellular

abnormal mitochondrial crista morphology ( J:183788 )

• the mitochondria observed in mutant diaphragm or tibialis anterior (TA) contained extensive and compact cristae

abnormal mitochondrial shape ( J:183788 )

• immunofluorescence analysis of primary diaphragm myoblasts revealed mitochondria that are significantly more elongated in mutant mice

increased mitochondrial size ( J:183788 )

• the mitochondria observed in mutant diaphragm or tibialis anterior (TA) are significantly enlarged compared with the control

• steady-state mitochondrial mass was unaffected

enhanced autophagy ( J:183788 )

• elevated autophagy in skeletal muscle of mutant mice

homeostasis/metabolism

enhanced autophagy ( J:183788 )

• elevated autophagy in skeletal muscle of mutant mice

abnormal calcium ion homeostasis ( J:183788 )

• mutant myoblasts exhibit a higher ER Ca2+ content compared with controls

muscle

muscle phenotype ( J:183788 )

N • no differences were observed in the overall structure of cardiac muscle in mutant mice compared with controls

abnormal sarcomere morphology ( J:183788 )

• disintegration of the sarcomeric structure in many areas

dilated sarcoplasmic reticulum ( J:183788 )

• presence of numerous vacuolar structures suggestive of dilated sarcoplasmic reticulum

abnormal skeletal muscle morphology ( J:183788 )

• diaphragm muscle from mutant 3.5-month-old mice by electron microscopy shows significant skeletal muscle structural disarray

abnormal skeletal muscle fiber morphology ( J:183788 )

• increased intermyofibrillar space in many areas

abnormal skeletal muscle fiber type ratio ( J:183788 )

• immunohistochemical analysis of diaphragm sections reacted with antibody against slow type I myosin heavy chain revealed that mutant diaphragm exhibits a higher proportion of slow-twitch fibers; this was not accompanied by a significant change in overall mean fiber size, although there were mild alterations in the fiber size distribution curves

impaired skeletal muscle contractility ( J:183788 )

• there is a decrease in diaphragmatic force-generating capacity during brief tetanic, single twitch and repetitive submaximal electrical stimulation protocols

• the mutant diaphragms were better able to maintain their initial force level during repetitive stimulations due to an increased percentage of slow-twitch fibers