Phenotypes associated with this allele

• Allele Symbol: Ts(16C-tel)1Cje
• Allele Name: trisomy, (16C-tel), 1 Charles J Epstein
• Allele ID: MGI:3623022
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Cbr1^tm1.1Tmnb/Cbr1^+ Ts(16C-tel)1Cje/0	involves: C57BL/6J * FVB/N	MGI:6712753
ot2	Ts(16C-tel)1Cje/0	B6.Cg-Ts(16C-tel)1Cje	MGI:5911391
ot3	Ts(16C-tel)1Cje/0	involves: C3H/HeJ * C57BL/6 * Rb(16.17)32Lub * STOCK Rb(11.16)2H/H	MGI:3831735
ot4	Ts(16C-tel)1Cje/0	involves: C3H/HeSnJ * C57BL/6J * CD-1 * Rb(16.17)32Lub * STOCK Rb(11.16)2H/H	MGI:3831728
ot5	Ts(16C-tel)1Cje/0	involves: C3H/HeSnJ * C57BL/6J * Rb(11.16)2H * Rb(16.17)32Lub	MGI:3706958
ot6	Ts(16C-tel)1Cje/0	involves: C57BL/6J * Rb(11.16)2H * Rb(16.17)32Lub	MGI:5140739

Genotype
MGI:6712753

cx1

• Allelic Composition: Cbr1^tm1.1Tmnb/Cbr1⁺; Ts(16C-tel)1Cje/0
• Genetic Background: involves: C57BL/6J * FVB/N

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

behavior/neurological

behavior/neurological phenotype ( J:294908 )

N • the deficit in spatial memory accuracy in the Barnes maze task seen in Ts(16C-tel)1Cje/0 mice is partially improved

increased locomotor activity ( J:294908 )

• mice travel longer distances than wild-type mice

decreased stereotypic behavior ( J:294908 )

• the number of stereotypic events (repetitive movements detected by laser sensors) is decreased

growth/size/body

decreased body weight ( J:294908 )

• 21-week old mice exhibit decreased body weight

nervous system

abnormal nervous system electrophysiology ( J:294908 )

• later phase of the depolarization envelope during long-term potentiation (LTP)-inducing stimulation is smaller

Genotype
MGI:5911391

ot2

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: B6.Cg-Ts(16C-tel)1Cje

growth/size/body

decreased body weight ( J:294908 )

• 21-week old mice exhibit decreased body weight

behavior/neurological

abnormal long-term spatial reference memory ( J:294908 )

• mice show no differences from wild-type mice in the learning phase or in the probe trials of the Barns maze task, however mice do not discriminate the target hole from the two adjacent ones, indicating a deficit in spatial memory accuracy

increased locomotor activity ( J:294908 )

• mice travel longer distances than wild-type mice

decreased stereotypic behavior ( J:294908 )

• the number of stereotypic events (repetitive movements detected by laser sensors) is decreased, especially during the first 60 minutes of exploration

nervous system

abnormal nervous system electrophysiology ( J:294908 )

• while 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

• in the presence of the GABA(B)-receptor antagonist CGP55845, the difference in the depolarization envelope is canceled

abnormal GABA-mediated receptor currents ( J:294908 )

• GABA(B) receptor-mediated synaptic inhibition is enhanced, with a larger ratio of GABA(B)receptor-mediated IPSCs to AMPA receptor-mediated EPSCs (I/E ratio)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:294908

Genotype
MGI:3831735

ot3

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: involves: C3H/HeJ * C57BL/6 * Rb(16.17)32Lub * STOCK Rb(11.16)2H/H

craniofacial

decreased cranium height ( J:73800 )

• the cranium is reduced along the anteriorposterior axis compared to in wild-type mice

small neurocranium ( J:73800 )

• the cranial vault is reduced by 4%

abnormal molar morphology ( J:73800 )

• the distance between the most anterior and most posterior points on the molar alveolar is smaller than in wild-type mice

abnormal mandibular angle morphology ( J:73800 )

• reduced in size compared to in wild-type mice

small mandibular coronoid process ( J:73800 )

• reduced in size compared to in wild-type mice

small mandible ( J:73800 )

shortened head ( J:73800 )

nervous system

nervous system phenotype ( J:91221 )

N • despite reductions in granule cell density and cerebellar size, Purkinje cell density is normal

abnormal cerebellar granule cell morphology ( J:91221 )

• granule cell density is reduced to 76% of normal

small cerebellum ( J:91221 )

• cerebellar volume is decreased to 88.8% of normal

• cerebellar area is decreased to 86.3% of normal

skeleton

decreased cranium height ( J:73800 )

• the cranium is reduced along the anteriorposterior axis compared to in wild-type mice

small neurocranium ( J:73800 )

• the cranial vault is reduced by 4%

abnormal molar morphology ( J:73800 )

• the distance between the most anterior and most posterior points on the molar alveolar is smaller than in wild-type mice

abnormal mandibular angle morphology ( J:73800 )

• reduced in size compared to in wild-type mice

small mandibular coronoid process ( J:73800 )

• reduced in size compared to in wild-type mice

small mandible ( J:73800 )

growth/size/body

abnormal molar morphology ( J:73800 )

• the distance between the most anterior and most posterior points on the molar alveolar is smaller than in wild-type mice

shortened head ( J:73800 )

Genotype
MGI:3831728

ot4

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: involves: C3H/HeSnJ * C57BL/6J * CD-1 * Rb(16.17)32Lub * STOCK Rb(11.16)2H/H

behavior/neurological

abnormal spatial learning ( J:47907 )

• in a hidden platform test and reverse platform test of a Morris water maze, mice exhibit impaired performance compared to wild-type mice

• learning over a 3 month period in the Morris water maze tests improves but remains impaired compared to in wild-type mice

nervous system

nervous system phenotype ( J:47907 )

N • adult brain gross morphology is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:47907

Genotype
MGI:3706958

ot5

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: involves: C3H/HeSnJ * C57BL/6J * Rb(11.16)2H * Rb(16.17)32Lub

reproductive system

oligozoospermia ( J:117029 )

♂ • sperm concentration was reduced below controls

decreased testis weight ( J:117029 )

♂ • slightly smaller testes than controls

reduced male fertility ( J:117029 )

♂ • reduced fertility but five of six males produced plugs and three sired pups

endocrine/exocrine glands

decreased testis weight ( J:117029 )

♂ • slightly smaller testes than controls

cellular

oligozoospermia ( J:117029 )

♂ • sperm concentration was reduced below controls

Genotype
MGI:5140739

ot6

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: involves: C57BL/6J * Rb(11.16)2H * Rb(16.17)32Lub

neoplasm

increased lymphoma incidence ( J:174270 )

• malignant lymphoma in the spleen and lymph nodes is observed in some mutants

• megakaryocytes are numerous is some spleens, suggesting a relation to megakaryocytic leukemia

increased follicular lymphoma incidence ( J:174270 )

• splenic architecture is replaced by proliferated immature mononuclear cells arranged in follicular aggregates indicating follicular lymphoma

cellular

abnormal neuron differentiation ( J:241597 )

• neurogenesis is decreased about 39.1% and 42.7% in the subventricular zone and the dentate gyrus, respectively

immune system

abnormal spleen red pulp morphology ( J:174270 )

• splenic red pulp is largely obliterated

abnormal spleen B cell follicle morphology ( J:174270 )

• splenic white pulp contains follicles that are larger and more irregular in shape than normal follicles and are often fused with adjacent follicles

abnormal spleen B cell follicle shape ( J:241597 )

• irregular

increased spleen B cell follicle size ( J:241597 )

nervous system

abnormal neuron differentiation ( J:241597 )

• neurogenesis is decreased about 39.1% and 42.7% in the subventricular zone and the dentate gyrus, respectively

dilated lateral ventricle ( J:241597 )

• lateral brain ventricle volumes are larger at 3 months of age, increased by 58.5%

• other (3rd and 4th) ventricles show trends of enlargement

• however, whole brain volume is normal

hematopoietic system

abnormal spleen red pulp morphology ( J:174270 )

• splenic red pulp is largely obliterated

abnormal spleen B cell follicle morphology ( J:174270 )

• splenic white pulp contains follicles that are larger and more irregular in shape than normal follicles and are often fused with adjacent follicles

abnormal spleen B cell follicle shape ( J:241597 )

• irregular

increased spleen B cell follicle size ( J:241597 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:174270 , J:241597