Phenotypes Associated with This Genotype

Genotype
MGI:8351822

• Allelic Composition: Grin2d^em10.1Frk/Grin2d⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

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

behavior/neurological

behavior/neurological phenotype ( J:372150 )

N • normal behavior in novel object recognition and Y maze tests at age 4 weeks

abnormal behavior ( J:372150 )

• reduced ability to hold position in catalepsy bar test at age 4 weeks

impaired spatial working memory ( J:372150 )

• random entry into arms in Y maze test at age 5-7 weeks

limb grasping ( J:372150 )

• hindlimb clasping at age P14-21

impaired limb coordination ( J:372150 )

• reduced latency to fall in rotarod test at ages P14-21 and 5 weeks

decreased locomotor activity ( J:372150 )

• reduced locomotor activity in open arena at age P10

• normal time to turn in response to vestibular gravitational cues at age P8-P9

increased locomotor activity ( J:372150 )

• increased locomotor activity in open field test at age 5 weeks

excessive vocalization ( J:385370 )

• increased maternal separation-induced ultrasonic vocalization (USV) calls in pups

convulsive seizures ( J:372150 )

• sometimes fatal

tonic-clonic seizures ( J:385370 )

• sometimes fatal

increased spike-wave discharge type I ( J:385370 , J:372150 )

• some lasting several minutes, starting from age P13-14 (J:385370)

growth/size/body

decreased birth weight ( J:385370 , J:372150 )

mortality/aging

lethality, incomplete penetrance ( J:385370 , J:372150 )

• 64% survival rate at age P31; mice die as early as pre-weaning age (J:385370)

• ~55% survival rate at age P31; mice die as early as pre-weaning age (J:372150)

nervous system

convulsive seizures ( J:372150 )

• sometimes fatal

tonic-clonic seizures ( J:385370 )

• sometimes fatal

increased spike-wave discharge type I ( J:385370 , J:372150 )

• some lasting several minutes, starting from age P13-14 (J:385370)

abnormal dendrite morphology ( J:385370 )

• swelling

abnormal synapse morphology ( J:385370 )

• irregular and loosely distributed pre-post synaptic associations

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 46		DOID:0080456	OMIM:617162	J:372150