Phenotypes Associated with This Genotype

Genotype
MGI:3833428

• Allelic Composition: Gdi1^tm1Toni/Y
• Genetic Background: B6N.129S7-Gdi1^tm1Toni

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

behavior/neurological

abnormal cued conditioning behavior ( J:142806 )

♂ • trace fear conditioning response is impaired when the intertraining interval is 15 or 26 min but not when the intertraining interval is 37 or 60 min

abnormal spatial working memory ( J:142806 )

♂ • poor performance in an 8 arm radial maze

♂ • performance is poor compared to controls when mice are trained in a 4 arm maze and tested 24 h later in an 8 arm maze but not when testing occurs 48 h after training

nervous system

abnormal synaptic vesicle number ( J:142806 )

♂ • at P23 and P90 severe depletion of synaptic vesicles is seen in synaptic terminals in the stratum radiatum of the CA1 region of the hippocampus

abnormal excitatory postsynaptic potential ( J:142806 )

♂ • display an increased facilitation during the initial phase to tetanic stimulation

♂ • at the end of the train synapses reach a milder depression plateau

abnormal synaptic glutamate release ( J:142806 )

♂ • decrease in the depression in glutamate release following multiple pulses of KCL

decreased synaptic glutamate release ( J:142806 )

♂ • glutamate release evoked by 15 nm KCL is reduced

enhanced paired-pulse facilitation ( J:142806 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
non-syndromic X-linked intellectual disability		DOID:0050776	OMIM:300716 OMIM:PS309530	J:142806