Phenotypes Associated with This Genotype

Genotype
MGI:5471464

• Allelic Composition: B4gat1^m1Ddg/B4gat1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6NTac
• Cell Lines: 12887A-G3

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:194150 )

• most mice die perinatally

nervous system

abnormal axon fasciculation ( J:194150 )

• mice exhibit axon defasciculation in the descending hindbrain projections compared with control mice

abnormal axon guidance ( J:194150 )

• mice exhibit axon defasciculation in the descending hindbrain projections compared with control mice

radial glial endfoot detachment ( J:194150 )

• endfoot detachment

abnormal neuronal migration ( J:194150 )

• in the cerebellum and hippocampus

hydrocephaly ( J:194150 )

abnormal spinal cord ventral commissure morphology ( J:194150 )

• at E11.5, commissural axons exhibit robust postcrossing trajectory defects with failure to project to the altered portion of the funiculus and altered lateral and ventral funiculi ratio compared with wild-type mice

• at E13, a large number of commissural axon project abnormally within the floor plate unlike in wild-type mice

• at E13.5, mice exhibit extensive disruptions in more lateral aspect of the ventrolateral funiculus compared with wild-type mice

ectopic neuron ( J:194150 )

• neuronal heterotopias

abnormal spinal cord dorsal column morphology ( J:194150 )

• mice exhibit axon defasciculation in the descending hindbrain projections compared with control mice

muscle

skeletal muscle atrophy ( J:194150 )

dystrophic muscle ( J:194150 )

• in surviving mice

behavior/neurological

limb grasping ( J:194150 )

hunched posture ( J:194150 )

cellular

abnormal axon fasciculation ( J:194150 )

• mice exhibit axon defasciculation in the descending hindbrain projections compared with control mice

abnormal axon guidance ( J:194150 )

• mice exhibit axon defasciculation in the descending hindbrain projections compared with control mice

radial glial endfoot detachment ( J:194150 )

• endfoot detachment

abnormal neuronal migration ( J:194150 )

• in the cerebellum and hippocampus

abnormal basement membrane morphology ( J:194150 )

• at E11.5, mice exhibit progressive fragmentation of the basement membrane surrounding the spinal cord which is accompanied by detachment of radial neuroepithelial endfeet from the basal surface unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:194150