Phenotypes associated with this allele

• Allele Symbol: Pomgnt1^tm1.1Cfg
• Allele Name: targeted mutation 1.1, Consortium for Functional Glycomics
• Allele ID: MGI:5052171
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pomgnt1^tm1.1Cfg/Pomgnt1^tm1.1Cfg	involves: C57BL/6	MGI:5615582

Genotype
MGI:5615582

hm1

• Allelic Composition: Pomgnt1^tm1.1Cfg/Pomgnt1^tm1.1Cfg
• Genetic Background: involves: C57BL/6

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

mortality/aging

preweaning lethality, complete penetrance ( J:217719 )

nervous system

abnormal radial glial cell morphology ( J:258757 )

• disruption of the radial glial scaffold with disruption of the glia limitans

abnormal Cajal-Retzius cell morphology ( J:258757 )

• most Cajal-Retzius cells extend away from the midline and are organized randomly and within the extracortical layer while some are clustered around the anterior cerebral artery unlike in wild-type mice where they are present multifocally within the superficial molecular layer

• decrease in the number of Cajal-Retzius cells in the rostral cortex at the level of the corpus callosum and a concurrent increase in the number of Cajal-Retzius cells at the level of the hippocampus, suggesting a failure of tangential migration of these cells

abnormal cerebellum external granule cell layer morphology ( J:258757 )

• 1 of 5 mice exhibit subtle cerebellar lesions characterized by disruption of the external granule cell layer

hydrocephaly ( J:258757 )

• in 2 of 5 mice

dilated lateral ventricle ( J:258757 )

• 2 of 5 mice exhibit dilation of the lateral ventricles indicative of hydrocephalus

abnormal inferior colliculus morphology ( J:258757 )

• the inferior and superior colliculi are disrupted, with lesions characterized by focal defects with obliteration of the subarachnoid space by heterotopic neuroglial cells

abnormal superior colliculus morphology ( J:258757 )

• the inferior and superior colliculi are disrupted, with lesions characterized by focal defects with obliteration of the subarachnoid space by heterotopic neuroglial cells

abnormal neocortex morphology ( J:258757 )

• the rostral cortex is disrupted at P0, with some cortical plate structure, subjacent to a substantial, disorganized, extracortical layer

• at the level of the corpus callosum, disorganization is more pronounced laterally

• at the hippocampus levels, the cortex is more organized laterally and mice exhibit incomplete formation of the interhemispheric fissure with interdigitation of neurons from opposing cortical plates

• mice exhibit a rostrocaudal gradient in the severity of brain lesions, with lesions most pronounced in the rostral cortex and progressively milder more caudally

abnormal cerebellar hemisphere morphology ( J:258757 )

• fusion of the cortical hemispheres with interdigitation of neurons from opposing cortical plates

abnormal meninges morphology ( J:258757 )

• leptomeningeal architecture is disrupted, with little distinction between the superficial arachnoid mater, the subarachnoid space, and the pia matter

abnormal brain pia mater morphology ( J:258757 )

• the pia is not apparent

cellular

abnormal radial glial cell morphology ( J:258757 )

• disruption of the radial glial scaffold with disruption of the glia limitans

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:258757