Phenotypes associated with this allele

• Allele Symbol: Slc1a4^em2Tmg
• Allele Name: endonuclease-mediated mutation 2, Teresa M Gunn
• Allele ID: MGI:7574169
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc1a4^em2Tmg/Slc1a4^em2Tmg	involves: C57BL/6J	MGI:7574259

Genotype
MGI:7574259

hm1

• Allelic Composition: Slc1a4^em2Tmg/Slc1a4^em2Tmg
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:344184 )

N • mice do not exhibit seizures, even upon handling, and are not prone to sudden, unexplained death and mice show no differences in grip strength, motor coordination, endurance, spatial learning, or memory and no differences in long-term potentiation

abnormal response to novel object ( J:344184 )

• in the novel object test, mice spend less time investigating the novel object than controls and the number of times that mice investigate either novel or non-novel object is lower, indicating that mice recognize the difference between the novel and familiar objects and prefer novelty but show reduced non-social exploratory behavior

• mice show an increase in social exploratory behavior, with more entries into and time spent in arm with bedding from an unfamiliar cage

nervous system

decreased brain weight ( J:344184 )

• brain weight is lower in 3-month-old mice; when normalized to body weight, the 3% difference in males is no longer significant but the 6% difference in females is still significant

• however, no gross differences in the brain seen at 5 weeks or 5 months of age, with no differences in overall morphology, in cell density in the hippocampus or dentate gyrus, in extent of myelination in the corpus callosum and other regions

abnormal corpus callosum morphology ( J:344184 )

• the corpus callosum at the soma, which connects the hemispheres of the motor cortex, is thinner

• however, no difference is seen at the genu which connects the hemispheres of the prefrontal cortex

abnormal cerebral cortex morphology ( J:344184 )

• cortical layer 1 is thinner by 5 months of age

• however, no differences are seen in neuron density or thickness of cortical layers 2-6

growth/size/body

growth/size/body region phenotype ( J:344184 )

N • mice show normal body weight

microcephaly ( J:344184 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spastic tetraplegia, thin corpus callosum, and progressive microcephaly		DOID:0070537	OMIM:616657	J:344184