Phenotypes associated with this allele

• Allele Symbol: Arhgef2^{Gt(IST13976A8)Tigm}
• Allele Name: gene trap IST13976A8, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:5200558
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Arhgef2^Gt(IST13976A8)Tigm/Arhgef2^Gt(IST13976A8)Tigm	involves: C57BL/6N	MGI:5576781

Genotype
MGI:5576781

hm1

• Allelic Composition: Arhgef2^{Gt(IST13976A8)Tigm}/Arhgef2^{Gt(IST13976A8)Tigm}
• Genetic Background: involves: C57BL/6N

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

cellular

abnormal neuronal migration ( J:242973 )

• mice exhibit perturbed migration of precerebellar neurons as indicated by the absence of the pontine gray nuclei and reticulotegmental nuclei which are formed through the anterior extramural migratory stream (AES) and enlarged external cuneate nuclei and smaller lateral nuclei due to disturbed posterior extramural migratory stream (PES)

immune system

immune system phenotype ( J:209086 )

N • mice exhibit normal numbers of T cells, B cells and mononuclear phagocytes in spleen and lymph nodes

abnormal macrophage physiology ( J:209086 )

• macrophages exhibit an impaired ability to retrain the replication of vesicular stomatitis virus compared with wild-type cells

decreased interferon-beta secretion ( J:209086 )

• in macrophages after transfection with high and low molecular weight pIpC

• in macrophages after infection with encephalomyocarditis virus (EMCV) or nonstructural protein 1 (NS1)-deficient influenza A variant

• however, secretion in response to TRIF, Myd88 or vesicular stomatitis virus infection is normal

increased susceptibility to Orthomyxoviridae infection ( J:209086 )

• mice infected with influenza A exhibit more severe inflammation with increased epithelial damage, mononuclear cell infiltration and alveolitis compared with wild-type mice

growth/size/body

microcephaly ( J:242973 )

• mild microcephaly

hematopoietic system

abnormal macrophage physiology ( J:209086 )

• macrophages exhibit an impaired ability to retrain the replication of vesicular stomatitis virus compared with wild-type cells

nervous system

abnormal neuronal migration ( J:242973 )

• mice exhibit perturbed migration of precerebellar neurons as indicated by the absence of the pontine gray nuclei and reticulotegmental nuclei which are formed through the anterior extramural migratory stream (AES) and enlarged external cuneate nuclei and smaller lateral nuclei due to disturbed posterior extramural migratory stream (PES)

decreased brain size ( J:242973 )

• reduction in the volume of total brain size in adults indicating microencephaly

abnormal brainstem morphology ( J:242973 )

• reduction in the volume of the brainstem

abnormal cerebellum morphology ( J:242973 )

• reduction in the volume of the cerebellum

• however, no major alterations in the distribution of neurons in the cortical layers, in the development of midbrain structures, and no abnormalities in the neocortex, and size of Purkinje cells and thickness of the cerebellar molecular layer are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodevelopmental disorder with midbrain and hindbrain malformations		DOID:0080312	OMIM:617523	J:242973