Phenotypes associated with this allele

• Allele Symbol: Mast1^em1Dak
• Allele Name: endonuclease-mediated mutation 1, David A Keays
• Allele ID: MGI:6356292
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mast1^em1Dak/Mast1^em1Dak	B6.Cg-Mast1^em1Dak	MGI:6358831
ht2	Mast1^em1Dak/Mast1^+	B6.Cg-Mast1^em1Dak	MGI:6358832

Genotype
MGI:6358831

hm1

• Allelic Composition: Mast1^em1Dak/Mast1^em1Dak
• Genetic Background: B6.Cg-Mast1^em1Dak

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

mortality/aging

neonatal lethality, complete penetrance ( J:268904 )

• mice die shortly after birth

nervous system

increased neuron apoptosis ( J:268904 )

• increase in neuronal apoptosis in the P0 cortex, with apoptosis more severe in the caudal regions of the cortex

• large increase in neuronal apoptosis in the P0 cerebellum

cellular

increased neuron apoptosis ( J:268904 )

• increase in neuronal apoptosis in the P0 cortex, with apoptosis more severe in the caudal regions of the cortex

• large increase in neuronal apoptosis in the P0 cerebellum

Genotype
MGI:6358832

ht2

• Allelic Composition: Mast1^em1Dak/Mast1⁺
• Genetic Background: B6.Cg-Mast1^em1Dak

nervous system

increased neuron apoptosis ( J:268904 )

• increase in neuronal apoptosis in the P0 cortex, with apoptosis more severe in the caudal regions of the cortex

• large increase in neuronal apoptosis in the P0 cerebellum

• however, apoptosis levels in the cortex are similar to wild-type at P10 and 8 weeks of age

increased corpus callosum size ( J:268904 )

• thicker corpus callosum, with thickening most prominent in the rostral regions encompassing the genu and the mid-body

• increase in corpus callosum volume

• however, no difference in either myelin thickness or axonal caliber in the corpus callosum are seen

thin cerebral cortex ( J:268904 )

• caudal cortex is thinner at P10 with overall reduction in cortical volume and thickness, most pronounced in caudal regions

• significant reduction in the thickness of layer 5

thin cerebellar granule layer ( J:268904 )

• the granule cell layer appears thinner

• reduction in the total number of granule cells per section

thin cerebellar molecular layer ( J:268904 )

• the molecular cell layer appears thinner

cerebellum hypoplasia ( J:268904 )

• severe reduction of the cerebellum

• however, foliation and lamination of the cerebellum are normal

abnormal innervation ( J:268904 )

• increase in the number of myelinated axons that project to the contralateral hemisphere

cellular

increased neuron apoptosis ( J:268904 )

• increase in neuronal apoptosis in the P0 cortex, with apoptosis more severe in the caudal regions of the cortex

• large increase in neuronal apoptosis in the P0 cerebellum

• however, apoptosis levels in the cortex are similar to wild-type at P10 and 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		DOID:0111403	OMIM:618273	J:268904