Phenotypes Associated with This Genotype

Genotype
MGI:5571040

• Allelic Composition: Del(7Coro1a-Spn)1Dolm/+
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6N * CD-1

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

adipose tissue

abnormal abdominal fat pad morphology ( J:210018 )

• reduction in accumulation of abdominal fat pads

behavior/neurological

tremors ( J:210018 )

hyperactivity ( J:210018 )

growth/size/body

decreased body weight ( J:210018 )

• reduced body weight as compared to controls

• some animals recover to normal body weight as adults

decreased body length ( J:210018 )

• 12.2% reduction in average body length as compared to controls

mortality/aging

premature death ( J:210018 )

• some mice die in the first postnatal weeks

nervous system

decreased brain weight ( J:210018 )

• mildly reduced brain weight and volume in P7 pups, however, brain weight matches controls as mice mature

abnormal corpus callosum morphology ( J:210018 )

• morphological abnormalities in corpus callosum

increased inferior colliculus size ( J:210018 )

• increase in size of superior and inferior colliculi (5.9% and 11.7%, respectively)

increased superior colliculus size ( J:210018 )

• increase in size of superior and inferior colliculi (5.9% and 11.7%, respectively)

abnormal basal ganglion morphology ( J:210018 )

• structural abnormalities in basal ganglia are characterized by expansion in dorsofrontal direction and reduction at ventrocaudal areas

• relative volume is unchanged

abnormal globus pallidus morphology ( J:210018 )

• 2.79% increase in relative volume of globus pallidus

abnormal medium spiny neuron morphology ( J:210018 )

• increased numbers of Drd2+ striatal medium spiny neurons

abnormal nucleus accumbens morphology ( J:210018 )

• 4.83% increase in relative volume of nucleus accumbens

hypothalamus hyperplasia ( J:210018 )

• increase in size of hypothalamus (4.2%)

thalamus hyperplasia ( J:210018 )

• increase in size of thalamus (9.6%)

thickened cerebral cortex ( J:210018 )

• increased thickness in medial areas of cortex

thin cerebral cortex ( J:210018 )

• reduced thickness in lateral and ventral areas of cortex

abnormal excitatory postsynaptic currents ( J:210018 )

• increase in ratio of AMPAR excitatory postsynaptic currents to NMDA receptor-mediated excitatory postsynaptic currents

increased miniature excitatory postsynaptic current frequency ( J:210018 )

• increase in mean miniature excitatory postsynaptic current frequency

decreased paired-pulse facilitation ( J:210018 )

• decrease in paired-pulse ratios across multiple interstimulus intervals

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:210018