Phenotypes Associated with This Genotype

Genotype
MGI:7610011

• Allelic Composition: Atp9a^em1Bcgen/Atp9a^em1Bcgen
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:335674 )

• median survival is 252.5 days, much lower than the 627 days in wild-type mice

behavior/neurological

impaired spatial learning ( J:335674 )

• in the Morris Water Maze, mice take more time and longer distances to find the invisible platform on day 2 and/or day 5 and mice cross the distant platform area less frequency and spend less time in the target quadrant during spatial probe testing on day 6, indicating disrupted hippocampus-depended spatial learning and memory

abnormal spatial reference memory ( J:335674 )

• in the Morris Water Maze, mice take more time and longer distances to find the invisible platform on day 2 and/or day 5 and mice cross the distant platform area less frequency and spend less time in the target quadrant during spatial probe testing on day 6, indicating disrupted hippocampus-depended spatial learning and memory

decreased grip strength ( J:335674 )

• the grasping score in the coat hanger test and latency to fall in the wire hang test are reduced, indicating impaired muscle strength

hyperactivity ( J:335674 )

• in the open field, mice exhibit higher crossing frequency and residence time in the central area and higher total movement distance and mean velocity, indicating hyperactivity

• mice exhibit an increase in total number of arm entries, movement distance, and mean velocity in the Y-maze test, indicating hyperactivity, however no changes in spontaneous alternations in the Y-maze test are seen

• in the elevated plus maze test, mice spend more time in the open arms and a greater willingness to move beyond the edges, show a greater total distance of movement and higher mean velocity, indicating hyperactivity but no effect on anxiety

nervous system

abnormal neurite morphology ( J:335674 )

• mice have severely damaged neuronal neurite morphology

abnormal dendrite arborization pattern ( J:335674 )

• the intersection numbers of dendritic arborizations in the motor cortex and hippocampus are reduced

• the total intersection number per neuron in the motor cortex shows a reduction compared to that in the hippocampus

decreased dendritic spine density ( J:335674 )

• the density of secondary dendritic spines in the pyramidal neurons of the motor cortex is reduced

abnormal CNS synaptic transmission ( J:335674 )

• mice show impaired synaptic transmission in the primary motor cortex and hippocampus

• however, synaptic transmission of pyramidal neurons in the secondary motor cortex is unaffected

abnormal miniature excitatory postsynaptic currents ( J:335674 )

• the frequency, but not amplitude, of miniature excitatory postsynaptic currents (mEPSCs) is reduced in the primary motor cortex

• both the frequency and amplitude of mEPSCs in hippocampal CA1 pyramidal neurons are decreased

• however, neither frequency or amplitude of mEPSCs is altered in M2 pyramidal neurons

reproductive system

infertility ( J:335674 )

• complete infertility is seen when homozygotes are mated

• only a small percentage of homozygotes are obtained by matings between homozygotes and heterozygotes; these surviving mice have no obvious differences in physical characteristics and no microcephaly is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
specific developmental disorder		DOID:0060038		J:335674