Phenotypes Associated with This Genotype

Genotype
MGI:3703450

• Allelic Composition: Ts(17¹⁶)65Dn/0
• Genetic Background: involves: C3H/HeSnJ * C57BL/6JEi * DBA/2J

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

reproductive system

abnormal male germ cell morphology ( J:117029 )

♂ • significantly more sperm with head abnormalities

decreased sperm progressive motility ( J:117029 )

♂ • significantly reduced frequencies of sperm with progressive motility

abnormal testis morphology ( J:96650 )

♂ • Leydig cells are clustered loosely in expanded interstitial compartment

abnormal Sertoli cell morphology ( J:96650 )

♂ • only a few Sertoli cells are visible; germ cells appear to be detached from the remaining Sertoli cells

decreased testis weight ( J:96650 , J:117029 )

♂ • testes are 37.9% of control testes weights (J:96650)

♂ • significantly smaller testes than controls (J:117029)

abnormal spermatogenesis ( J:96650 , J:117029 )

♂ • spermatocytes beyond pachytene stage and round spermatids are significantly reduced in number, while elongated spermatids are rare and remaining spermatids have deformed nuclei (J:96650)

♂ (J:117029)

oligozoospermia ( J:117029 )

♂ • sperm concentration was significantly reduced below controls

arrest of male meiosis ( J:117029 )

♂ • many tubules contain germ cells in arrested at meiotic metaphase 1

male infertility ( J:117029 )

♂ • presence of an intact extra chromosome interferes with chromosome pairing in meiosis

♂ • produced no progeny

♂ • fail to produce a vaginal plug

cellular

abnormal male germ cell morphology ( J:117029 )

♂ • significantly more sperm with head abnormalities

oligozoospermia ( J:117029 )

♂ • sperm concentration was significantly reduced below controls

arrest of male meiosis ( J:117029 )

♂ • many tubules contain germ cells in arrested at meiotic metaphase 1

decreased sperm progressive motility ( J:117029 )

♂ • significantly reduced frequencies of sperm with progressive motility

growth/size/body

decreased body size ( J:96650 )

• mice are ~20% smaller in size compared to normal littermates postnatally

decreased body weight ( J:94569 )

nervous system

abnormal cerebellar granule cell morphology ( J:94569 )

• dendritic spine density on granule cells is decreased on average by 17% compared to in wild-type mice

abnormal CNS synapse formation ( J:94569 )

• the area of presynaptic elements (p38+) is increased in the fascia dentate and motor cortex

• in young and old mice alike, small presynaptic boutons are decreased and large presynaptic boutons are increased in the fascia dentate and motor cortex with the average diameter of a presynaptic bouton increased by 40% in the cortex

• 18% of dendritic spines are enlarged and display irregular heads or a globular shape

• average synapse length is increased 34% in the hippocampus and 25% in the cortex

• glutamatergic synapses are distributed 33% on the dendritic shaft (compared to 51% in wild-type mice) and 67% (compared to 49% in wild-type mice) on the heads or necks of the dendritic spines

abnormal neuron morphology ( J:96650 )

• in fascia dentate, spine density is significantly decreased on dendrites of granule cells; dendritic spines are significantly enlarged; dendritic width is similar to controls

abnormal dendrite morphology ( J:94569 )

• dendritic spine density on granule cells is decreased on average by 17% compared to in wild-type mice

• 18% of spines are enlarged and display irregular heads or a globular shape

• basal dentritic spine density in CA1 is increased

endocrine/exocrine glands

abnormal testis morphology ( J:96650 )

♂ • Leydig cells are clustered loosely in expanded interstitial compartment

abnormal Sertoli cell morphology ( J:96650 )

♂ • only a few Sertoli cells are visible; germ cells appear to be detached from the remaining Sertoli cells

decreased testis weight ( J:96650 , J:117029 )

♂ • testes are 37.9% of control testes weights (J:96650)

♂ • significantly smaller testes than controls (J:117029)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:94569 , J:96650