About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3832643
Allelic
Composition
Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pomgnt1tm1Stk mutation (0 available); any Pomgnt1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• while no embryonic lethality is evident, 60% of mice die prior to weaning
• survivors exhibit a normal life span

homeostasis/metabolism
• 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
• the average size of muscle fibers is less than in wild-type mice
• neonatal and adult mice exhibit fewer myofibers than in wild-type mice
• very mild dystrophic changes are observed
• 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
• in culture, satellite cells grow poorly compared to wild-type cells
• 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

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/22/2020
MGI 6.16
The Jackson Laboratory