Phenotypes Associated with This Genotype

Genotype
MGI:3814717

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

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

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