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Phenotypes Associated with This Genotype
Genotype
MGI:6370003
Allelic
Composition
Phf8tm1.1Cdcn/Y
Genetic
Background
B6.129S6(Cg)-Phf8tm1.1Cdcn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phf8tm1.1Cdcn mutation (0 available); any Phf8 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show a deficit in the passive avoidance test
• rapamycin treatment rescues the passive avoidance deficit
• percent of freezing time in the training context after conditioning is decreased
• mice exhibit increased escape latency during the training process of the Morris water maze, indicating impaired spatial learning
• 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
• 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
• 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
• tetanic stimulation-induced long-term potentiation (LTP) is compromised in the hippocampus
• rapamycin treatment significantly reverses the impaired LTP induction

craniofacial
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/12/2021
MGI 6.17
The Jackson Laboratory