Phenotypes Associated with This Genotype

Genotype
MGI:6717362

• Allelic Composition: Trappc9^{tm1a(EUCOMM)Wtsi}/Trappc9^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

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

nervous system

decreased brain size ( J:294716 )

• at 16 weeks of age, total brain area is decreased by 12.7%, with a 4.1% decrease in width and a 9.8% decrease in height of the whole brain

• both grey and white matter are affected

decreased brain weight ( J:294716 )

• homozygotes show a 11% reduction in adult brain weight relative to wild-type controls

decreased corpus callosum size ( J:294716 )

• 12.7% reduction in the areas of the corpus callosum

decreased substantia nigra size ( J:294716 )

• 49.1% overall decrease in the area of the substantia nigra

small thalamus ( J:294716 )

• 15.9% reduction in the area of the thalamus

decreased cingulate cortex size ( J:294716 )

• 25.7% and 12.1% reduction, respectively, in the area and height of the cingulate cortex

decreased hippocampal fimbria size ( J:294716 )

• 17.7% reduction in the area of the fimbria of the hippocampus

abnormal cerebral cortex morphology ( J:294716 )

• 10% reduction in total area of the cortex

decreased primary motor cortex size ( J:294716 )

• 11.7% reduction in the thickness of the primary motor cortex

growth/size/body

increased body fat mass ( J:294716 )

♀ • females, but not males, show a marked increase in fat mass at 16 weeks of age

increased lean body mass ( J:294716 )

♀ • females, but not males, show a moderate increase in lean tissue mass at 16 weeks of age

increased body weight ( J:294716 )

• in an initial pipeline study, both sexes show an ~1.5-fold increase in body weight at 16 weeks of age, with a lager effect in female mice

• in a second, larger cohort study, females gain significantly more weight starting from 5 weeks of age and cumulatively gain 16% more weight by 16 weeks of age, while males gain 11% more weight by week 16 relative to wild-type controls

obese ( J:294716 )

♀

microcephaly ( J:294716 )

homeostasis/metabolism

increased circulating insulin level ( J:294716 )

• both sexes show elevated serum insulin levels

increased circulating cholesterol level ( J:294716 )

♀ • females, but not males, show elevated plasma cholesterol levels

increased circulating HDL cholesterol level ( J:294716 )

♀

increased circulating LDL cholesterol level ( J:294716 )

♀

increased circulating glycerol level ( J:294716 )

♀ • females, but not males, show elevated plasma glycerol levels

increased circulating triglyceride level ( J:294716 )

♀ • females, but not males, show elevated steady-state plasma levels of triglycerides

impaired glucose tolerance ( J:294716 )

♀ • females, but not males, show elevated plasma glucose levels during a glucose tolerance test

behavior/neurological

decreased exploration in new environment ( J:294716 )

• mice move 22% less than wild-type controls in a 20-min open field test and 21% less in a 10-min elevated plus maze (EPM) test, indicating reduced exploratory activity

• however, no significant difference is seen in the time spent in the periphery and center in the open field, or in the closed versus open arms in EPM tests, suggesting normal anxiety levels

abnormal social recognition ( J:294716 )

♀ • in a 2-step social recognition test, mice exhibit normal social learning but 24 hours later fail to distinguish a familiar mouse from a novel one in the discrimination test, indicating impaired social memory

♀ • however, mice show normal social preference towards conspecifics in a 3-chamber sociability test

adipose tissue

increased body fat mass ( J:294716 )

♀ • females, but not males, show a marked increase in fat mass at 16 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intellectual disability		DOID:1059		J:294716