Phenotypes associated with this allele

• Allele Symbol: Pomgnt1^tm1Stk
• Allele Name: targeted mutation 1, Shin'ichi Takeda
• Allele ID: MGI:3832592
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pomgnt1^tm1Stk/Pomgnt1^tm1Stk	involves: 129S/SvEv	MGI:3832643

Genotype
MGI:3832643

hm1

• Allelic Composition: Pomgnt1^tm1Stk/Pomgnt1^tm1Stk
• Genetic Background: involves: 129S/SvEv

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:144928 )

• while no embryonic lethality is evident, 60% of mice die prior to weaning

• survivors exhibit a normal life span

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:144746 , J:144928 )

• mice exhibit hypoglycosylation of alpha-dystroglycan compared to in wild-type mice (J:144746)

• however, glycosylation of alpha-dystrophan can be restored by ectopic expression of LARGE (J:144746)

• laminin-binding activity of alpha-dystroglycan is reduced compared to in wild-type (J:144746)

• mice exhibit hypoglycosylation of alpha-dystroglycan compared to in wild-type mice (J:144928)

• laminin-binding of alpha-dystroglycan is eliminated (J:144928)

muscle

decreased skeletal muscle fiber size ( J:144928 )

• the average size of muscle fibers is less than in wild-type mice

decreased skeletal muscle fiber number ( J:144928 )

• neonatal and adult mice exhibit fewer myofibers than in wild-type mice

dystrophic muscle ( J:144928 )

• very mild dystrophic changes are observed

abnormal muscle physiology ( J:144928 )

• in culture, satellite cells grow poorly compared to wild-type cells

• in culture, myoblasts proliferate slower than wild-type cells

• ectopic expression of POMGNT1 does not restore myoblast proliferation rates

• however, under differentiation conditions myoblast cells behave normally

abnormal skeletal muscle satellite cell proliferation ( J:144928 )

• in culture, satellite cells grow poorly compared to wild-type cells

abnormal muscle regeneration ( J:144928 )

• following chronic exposure to cardiotoxin, muscle fibers exhibit more fibrosis and fatty infiltrate than in similarly treated wild-type mice indicating abnormal satellite cell function

growth/size/body

decreased body size ( J:144928 )

cellular

abnormal skeletal muscle satellite cell proliferation ( J:144928 )

• in culture, satellite cells grow poorly compared to wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Walker-Warburg syndrome		DOID:0050560		J:144928