Phenotypes Associated with This Genotype

Genotype
MGI:3717173

• Allelic Composition: Prex1^tm1Hcew/Prex1^tm1Hcew
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

immune system

impaired neutrophil chemotaxis ( J:102214 )

• when stimulated with fMLP, neutrophil migration speed is mildly reduced

increased neutrophil cell number ( J:102214 )

• mild neutrophilia with 61% more peripheral neutrophils compared to wild-type mice

impaired neutrophil recruitment ( J:102214 )

• in an aseptic peritonitis model, thioglycollate-stimulated recruitment of neutrophil is 50% of that in wild-type mice

behavior/neurological

behavior/neurological phenotype ( J:228203 )

N • mice exhibit normal motor coordination and balance on the rotarod and locomotor activity in an open field test and do not exhibit anxiety-like behavior

abnormal learning/memory/conditioning ( J:228203 )

• in a modified 4-trial social memory assay, mutants show no habituation to the stimulus mouse or dishabituation to the novel mouse, indicating impaired social memory

abnormal contextual conditioning behavior ( J:228203 )

• mutants show a smaller reduction in freezing time during the extinction phase of contextual fear, indicating behavioral inflexibility

• however, mutants do not differ from wild-type mice in the delayed nonmatch to place T-maze task

impaired spatial learning ( J:228203 )

• in a reversal learning tasking using the Morris water maze, mutants show an impairment in learning the new platform location and spend equivalent amounts of time in the new target and opposite quadrants

increased grooming behavior ( J:228203 )

• mutants spend more time grooming than wild-type mice

• however, mutants show normal jumping and digging behaviors

abnormal social investigation ( J:228203 )

• mutants show normal sociability in the initial trial of the 3-chamber social interaction assay, however in the subsequent social novelty trial, mutants spend almost identical amounts of time interacting with stranger 1 and with stranger 2 instead of showing a preference for the novel (stranger2) mouse as seen in wild-type mice

• treatment of mice with D-serine significantly improves social recognition

• -however, mice exhibit a normal interest in novelty in the novel-object recognition assay and normal social novelty recognition between a stranger mouse and a familiar cohoused mouse

decreased vocalization ( J:228203 )

• mutant pups emit fewer ultrasonic calls than wild-type mice

nervous system

nervous system phenotype ( J:228203 )

N • mutants exhibit normal prepulse inhibition and normal quantity and distribution of cortical and hippocampal neurons and complexity of the dendrites in the neurons of the CA1 region

reduced long-term depression ( J:228203 )

• NMDAR-dependent LTD is impaired in the cerebellum but not in the primary visual cortex of mutants

• treatment of mice with D-serine fully rescues the NMDAR-dependent LTD impairment

• however, AMPAR-mediated basal synaptic transmission and presynaptic transmitter release are normal, metabotropic glutamate receptor-dependent LTD is normal, and long-term potentiation (LTP) and depolarization are intact

liver/biliary system

small liver ( J:102214 )

growth/size/body

decreased body weight ( J:102214 , J:228203 )

• at 10 weeks mice weigh 14% less than wild-type mice and remain smaller (J:102214)

• mutants weigh slightly less than wild-type mice at 12 and 16 weeks of age (J:228203)

hematopoietic system

impaired neutrophil chemotaxis ( J:102214 )

• when stimulated with fMLP, neutrophil migration speed is mildly reduced

increased neutrophil cell number ( J:102214 )

• mild neutrophilia with 61% more peripheral neutrophils compared to wild-type mice

impaired neutrophil recruitment ( J:102214 )

• in an aseptic peritonitis model, thioglycollate-stimulated recruitment of neutrophil is 50% of that in wild-type mice

cellular

impaired neutrophil chemotaxis ( J:102214 )

• when stimulated with fMLP, neutrophil migration speed is mildly reduced

taste/olfaction

taste/olfaction phenotype ( J:228203 )

N • mice exhibit normal odor recognition

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:228203