Phenotypes associated with this allele

• Allele Symbol: Rb(12.Ts17¹⁶65Dn)2Cje
• Allele Name: Robertsonian translocation, Chr 12 and T17<16>Dn, Charles J Epstein 2
• Allele ID: MGI:3531161
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Ntrk2^tm1.1Tes/Ntrk2^+ Rb(12.Ts17^1665Dn)2Cje/0	involves: 129S1/Sv * C3H/HeSnJ * C57BL/6JEi	MGI:3833368
ot2	Rb(12.Ts17^1665Dn)2Cje/0	involves: C3H/HeSnJ * C57BL/6JEi	MGI:3715788
ot3	Rb(12.Ts17^1665Dn)2Cje/0	Not Specified	MGI:6712745

Genotype
MGI:3833368

cx1

• Allelic Composition: Ntrk2^tm1.1Tes/Ntrk2⁺; Rb(12.Ts17¹⁶65Dn)2Cje/0
• Genetic Background: involves: 129S1/Sv * C3H/HeSnJ * C57BL/6JEi

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

nervous system

nervous system phenotype ( J:110478 )

N • the Ntrk2^tm1.1Tes allele rescues the increased apoptosis of cortical cells in vivo, and the accelerated death of hippocampal neurons in vitro that occurs with cells carrying the Rb(12.Ts171665Dn)2Cje allele

Genotype
MGI:3715788

ot2

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

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

Genotype
MGI:6712745

ot3

• Allelic Composition: Rb(12.Ts17¹⁶65Dn)2Cje/0
• Genetic Background: Not Specified

nervous system

abnormal nervous system electrophysiology ( J:294908 )

• long-term potentiation induced by tetanic stimulation (100 Hz, 1 s) in the CA1 region of hippocampal slices is mostly intact, however depolarization during high-frequency stimulation (depolarization envelope) 950 ms after the first pulse of tetanic stimulation is smaller