Phenotypes Associated with This Genotype

Genotype
MGI:6370003

• Allelic Composition: Phf8^tm1.1Cdcn/Y
• Genetic Background: B6.129S6(Cg)-Phf8^tm1.1Cdcn

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

behavior/neurological

impaired passive avoidance behavior ( J:258245 )

♂ • mice show a deficit in the passive avoidance test

♂ • rapamycin treatment rescues the passive avoidance deficit

impaired contextual conditioning behavior ( J:258245 )

♂ • percent of freezing time in the training context after conditioning is decreased

impaired spatial learning ( J:258245 )

♂ • mice exhibit increased escape latency during the training process of the Morris water maze, indicating impaired spatial learning

abnormal spatial reference memory ( J:258245 )

♂ • in probe trials of the Morris water maze, the preference for target quadrant is compromised, indicating impaired spatial memory

♂ • mice show impaired spatial memory in the Barnes maze

♂ • however, swimming speed during training and escape latency in water maze test are similar to wild-type mice indicating no effect of motor and perceptual abilities

♂ • low-dose rapamycin treatment improves the preference of mice for target quadrant on day 5 in Morris water maze

♂ • low-dose rapamycin treatment improves the performance in the latency to the target hole during the training days and numbers of target pokes, and time in the zone in the probe test of the Barnes maze

increased locomotor activity ( J:258245 )

♂ • mice exhibit a slight increase in spontaneous activity in the open field test

♂ • rapamycin treatment does not affect the increased spontaneous activity

♂ • however, mice show no difference in the social ability test

nervous system

abnormal synaptic transmission ( J:258245 )

♂ • basal synaptic transmission is increased as indicated by a higher value of the postsynaptic field excitatory postsynaptic potential (fEPSP) slope against dose-escalating intensities of stimuli

♂ • however, paired-pulse facilitation across different inter-stimulus intervals shows no differences in presynaptic release of transmitter

reduced long-term potentiation ( J:258245 )

♂ • tetanic stimulation-induced long-term potentiation (LTP) is compromised in the hippocampus

♂ • rapamycin treatment significantly reverses the impaired LTP induction

craniofacial

craniofacial phenotype ( J:258245 )

♂N • no cleft lip or palate, or other craniofacial or limb defects are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic X-linked intellectual disability Siderius type		DOID:0060812	OMIM:300263	J:258245