Phenotypes associated with this allele

• Allele Symbol: Pomgnt2^tm1Kkat
• Allele Name: targeted mutation 1, Koichi Kato
• Allele ID: MGI:5617746
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pomgnt2^tm1Kkat/Pomgnt2^tm1Kkat	either: B6J.Cg-Pomgnt2^tm1Kkat or (involves: C57BL/6J * C57BL/6NJcl) or (involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj)	MGI:5662093

Genotype
MGI:5662093

hm1

• Allelic Composition: Pomgnt2^tm1Kkat/Pomgnt2^tm1Kkat
• Genetic Background: either: B6J.Cg-Pomgnt2^tm1Kkat or (involves: C57BL/6J * C57BL/6NJcl) or (involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj)

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

mortality/aging

neonatal lethality, complete penetrance ( J:215959 )

• homozygotes die within the first day of birth

growth/size/body

decreased birth body size ( J:215959 )

• newborn homozygotes are slightly smaller than wild-type or heterozygous controls

decreased birth weight ( J:215959 )

• at P0

decreased fetal size ( J:215959 )

• at E17.5

nervous system

radial glial endfoot detachment ( J:215959 )

• at E17.5, the radial glia endfoot has detached from the basal membrane

abnormal neuronal migration ( J:215959 )

• at E17.5, mutant brains show a neuronal migration defect due to a lack of laminin-binding glycans

abnormal cerebral cortex morphology ( J:215959 )

• at E17.5, nuclear staining revealed defects in neuronal migration and laminar organization in the cerebral cortex

cellular

radial glial endfoot detachment ( J:215959 )

• at E17.5, the radial glia endfoot has detached from the basal membrane

abnormal neuronal migration ( J:215959 )

• at E17.5, mutant brains show a neuronal migration defect due to a lack of laminin-binding glycans

abnormal basal lamina morphology ( J:215959 )

• at E17.5, mutant brains exhibit abnormal basal lamina formation

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:215959 )

• at E17.5, mutant brains exhibit hypoglycosylation of alpha-dystroglycan, indicating a lack of laminin-binding glycans

• laminin-binding glycans are not rescued by LARGE overexpression in mutant MEFs

• no differences in the expression levels of other dystroglycanopathy-associated genes are observed in brain