Phenotypes Associated with This Genotype

Genotype
MGI:3715788

• Allelic Composition: Rb(12.Ts17¹⁶65Dn)2Cje/0
• Genetic Background: involves: C3H/HeSnJ * C57BL/6JEiJ

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

growth/size/body

decreased body size ( J:96650 )

• mice are ~20% smaller in size compared to normal littermates postnatally, which persists throughout life

reproductive system

reproductive system phenotype ( J:96650 )

N • mice are viable and fertile

N • testes are structurally indistinguishable from controls and have normal progression of spermatogenesis

decreased testis weight ( J:96650 )

♂ • testes are 65.6% of control testes weights

nervous system

increased neuron apoptosis ( J:110478 )

• the number of apoptotic neurons in the cortex is more than double that of controls

abnormal hippocampus morphology ( J:110478 )

• basal calcium levels of hippocampal neurons in culture is elevated compared to controls

abnormal neuron morphology ( J:96650 )

• spine density in dentate granule cells is decreased (by ~15%) compared to controls; decrease is significant for inner and middle third portions of the molecular layer of the fascia dentate

• dendritic spines are significantly enlarged, with ~13% having a head area larger than 0.5 um² compared to 2% in controls; spines have significantly shorter necks, by ~30% compared to controls

loss of hippocampal neurons ( J:110478 )

• 50% of hippocampal neurons cultured in vitro die after 7 days compared to just 15% for controls

endocrine/exocrine glands

decreased testis weight ( J:96650 )

♂ • testes are 65.6% of control testes weights

cellular

increased neuron apoptosis ( J:110478 )

• the number of apoptotic neurons in the cortex is more than double that of controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:96650