Phenotypes associated with this allele

• Allele Symbol: Tc(HSA21)1TybEmcf
• Allele Name: transchromosomal, human 21, line 1, Victor Tybulewicz and Elizabeth M C Fisher
• Allele ID: MGI:3814712
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Del(10Prmt2-Cstb)4Yah/+ Tc(HSA21)1TybEmcf/0	involves: 129P2/OlaHsd * BALB/c * C3H/HeH * C57BL/6	MGI:4868435
ot2	Tc(HSA21)1TybEmcf/0	involves: 129P2/OlaHsd * BALB/c * C3H/HeH * C57BL/6	MGI:4868436
ot3	Tc(HSA21)1TybEmcf/0	involves: 129S2/SvPas * 129S8/SvEv * C57BL/6J	MGI:3814717

Genotype
MGI:4868435

cx1

• Allelic Composition: Del(10Prmt2-Cstb)4Yah/+; Tc(HSA21)1TybEmcf/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C3H/HeH * C57BL/6

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

behavior/neurological

abnormal learning/memory/conditioning ( J:167359 )

abnormal spatial learning ( J:167359 )

• slower to learn task in a Morris Maze test

• travelled further to find the hidden platform

abnormal spatial reference memory ( J:167359 )

• little retention of learning seen during probe trials in a Morris Maze test

decreased anxiety-related response ( J:167359 )

• less time spent in the periphery of an open field test

abnormal motor coordination/balance ( J:167359 )

impaired coordination ( J:167359 )

• perform poorly on a rotarod

• fall of a rotarod more rapidly and at slower speeds

• rotarod performance does not improve with practice

impaired limb coordination ( J:167359 )

• 25% more errors than controls on a notched bar test of hindlimb performance

abnormal social investigation ( J:167359 )

• investigation of a newly introduced mouse is normal

• no distinction made between mice after the later introduction of a second new mouse

Genotype
MGI:4868436

ot2

• Allelic Composition: Tc(HSA21)1TybEmcf/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C3H/HeH * C57BL/6

behavior/neurological

abnormal learning/memory/conditioning ( J:167359 )

abnormal spatial learning ( J:167359 )

• slower to learn task in a Morris Maze test

• travelled further to find the hidden platform

abnormal spatial reference memory ( J:167359 )

• little retention of learning seen during probe trials in a Morris Maze test

decreased anxiety-related response ( J:167359 )

• less time spent in the periphery of an open field test

abnormal motor coordination/balance ( J:167359 )

impaired coordination ( J:167359 )

• perform poorly on a rotarod

• fall of a rotarod more rapidly and at slower speeds

• rotarod performance does not improve with practice

impaired limb coordination ( J:167359 )

• 25% more errors than controls on a notched bar test of hindlimb performance

abnormal social investigation ( J:167359 )

• no distinction made between mice after the later introduction of a second new mouse

• investigation of a newly introduced mouse is normal

Genotype
MGI:3814717

ot3

• Allelic Composition: Tc(HSA21)1TybEmcf/0
• Genetic Background: involves: 129S2/SvPas * 129S8/SvEv * C57BL/6J

cardiovascular system

failure of atrioventricular cushion closure ( J:101383 )

• seen in mice with a full atrioventricular canal defect

overriding aortic valve ( J:101383 )

• in one mouse that also displayed a ventricular septum defect

dextrocardia ( J:101383 )

• some mice exhibit hearts that are tilted onto their right unlike in wild-type mice

atrioventricular septal defect ( J:101383 )

• one mouse exhibited an atrioventricular septal defect associated with unfused atrioventricular cushions

perimembraneous ventricular septal defect ( J:101383 )

• 7 of 11 mice exhibit a perimembranous ventral septal defect such that the ventricular septum fails to fuse to the proximal outflow cushion tracts

nervous system

decreased neuron number ( J:101383 )

• mice exhibit a reduction in the number of granule neurons in the cerebellum compared to wild-type mice

reduced long-term potentiation ( J:101383 )

behavior/neurological

abnormal response to novel object ( J:101383 )

• mice spend less time exploring a novel object than wild-type mice

craniofacial

abnormal mandible morphology ( J:101383 )

• mutant mice exhibit a mandible that is smaller between the coronoid process and the mandibular angle and between the coronoid process and the most superior point of the incisor alveolar rim

skeleton

abnormal mandible morphology ( J:101383 )

• mutant mice exhibit a mandible that is smaller between the coronoid process and the mandibular angle and between the coronoid process and the most superior point of the incisor alveolar rim

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:101383