Phenotypes Associated with This Genotype

Genotype
MGI:5911937

• Allelic Composition: Tg(Ckm-Sgcg)4Mcn/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

premature death ( J:128649 )

• premature death, with the founder dying at day 110

• progeny die prematurely and do not reproduce

behavior/neurological

abnormal gait ( J:128649 )

• mice exhibit abnormal gait characterized by widened hind limb spacing

decreased locomotor activity ( J:128649 )

• mice are less active

growth/size/body

decreased body size ( J:128649 )

• mice are smaller than wild-type littermates

muscle

abnormal skeletal muscle morphology ( J:128649 )

• alpha- and beta-sarcoglycan levels are upregulated in muscle and gamma-sarcoglycan is mislocalized to the cytoplasm rather than the plasma membrane

increased variability of skeletal muscle fiber size ( J:128649 )

centrally nucleated skeletal muscle fibers ( J:128649 )

• abundant central nuclei are seen in dystrophic muscle

decreased skeletal muscle mass ( J:128649 )

• muscle mass of individual quadriceps is lower

dystrophic muscle ( J:128649 )

• hind limbs are dystrophic with marked muscle wasting and gross fibrofatty replacement

• muscle shows severe dystrophic changes, including wide variation in fiber size, an inflammatory infiltrate, increased connective tissue, and adipocyte replacement of myofibers

• fast fibers are predominately affected by degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
limb-girdle muscular dystrophy		DOID:11724		J:128649