Phenotypes Associated with This Genotype

Genotype
MGI:2684281

• Allelic Composition: Dag1^tm2Kcam/Dag1^tm2Kcam; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

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

nervous system

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

abnormal brain morphology ( J:86901 )

• fusion of the cerebral interhemispheric fissure and adjacent cerebellar folia

• malformations resembling polymicrogyria

abnormal cerebellum development ( J:86901 )

• granule cells are observed in the subrarachnoid space during postnatal cerebellar development indicating aberrant migration of granule cells

increased brain size ( J:86901 )

• about 20% increase in brain size

abnormal hippocampus CA1 region morphology ( J:86901 )

• some mutants show minor dispersion of neuronal cell bodies in the CA1 region

abnormal hippocampus granule cell layer ( J:86901 )

• some mutants show focal irregularities of the dentate granule cell layer in the hippocampus

abnormal cerebral cortex morphology ( J:86901 )

• cerebral cortical surfaces show widespread discontinuities of the glia limitans (pial surface basal lamina) accompanied by glial neuronal heterotopia within the leptomeninges

abnormal stratification in cerebral cortex ( J:86901 )

• multifocal disarray of neuronal layering in the cerebral cortex

abnormal cerebellar cortex morphology ( J:86901 )

• cerebellar cortical surfaces show widespread discontinuities of the glia limitans (pial surface basal lamina) accompanied by glial neuronal heterotopia within the leptomeninges

astrocytosis ( J:86901 )

• GFAP-immunoreactive astrocytes are prominent in the cerebral cortex, indicating gliosis

abnormal subarachnoid space morphology ( J:86901 )

• the normally open subarachnoid space is filled with heterotopic astrocytic and neuronal processes

reduced long-term potentiation ( J:86901 )

• induction of long-term potentiation (LTP) by high-frequency stimulation is blunted in hippocampal slices, however baseline neurotransmission is unaffected and presynaptic neurotransmitter release is not affected

vision/eye

abnormal rod electrophysiology ( J:158199 )

• significantly reduced positive scotopic threshold response

• significantly increased negative scotopic threshold response

• the b-wave responses are severely attenuated

cellular

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

growth/size/body

megacephaly ( J:86901 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:86901