Phenotypes Associated with This Genotype

Genotype
MGI:7611646

• Allelic Composition: Frmd5^em#Yuw/Frmd5^em#Yuw
• Genetic Background: C57BL/6J-Frmd5^em#Yuw

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

behavior/neurological

behavior/neurological phenotype ( J:345640 )

N • mice exhibit normal behavior on the rotarod, in anxiety and nociception in the open field test, in the marble burying test, in the dark-light emergence test, elevated O-maze, hot plate test, and von Frey test, normal ultrasonic vocalization and do not show self-injury characteristics

abnormal spatial reference memory ( J:345640 )

• mice show impaired spatial memory in the Y maze, showing decreased duration in and entries into the novel arm, but not in the Morris water maze or in spatial working memory in the Y maze

abnormal emotion/affect behavior ( J:345640 )

• mice show a deficiency in novel position recognition in the place/position recognition test, with reduced exploration time and preference index of the novel position

abnormal response to novel object ( J:345640 )

• mice show impaired recognition ability in the novel object recognition test with lower preference index for the novel object and reduced exploration time of the novel object compared to controls

increased grooming behavior ( J:345640 )

increased vertical activity ( J:345640 )

• mice exhibit increased climbing and jumping, indicating increased compulsive behaviors

impaired social recognition ( J:345640 )

• in the three-chambered social approach task, mice exhibit a lower preference index in the short-term social memory task between 2 stranger positions than in the social preference task between strangers and objects indicating deficiency of social memory

decreased social investigation ( J:345640 )

• mice show lower reciprocal social interaction and sniffing in the dyadic social interaction test

• however, social interaction time in the home cage and times of social interaction are unaffected in the home cage test

reproductive system

female infertility ( J:345640 )

♀

nervous system

abnormal dendrite arborization pattern ( J:345640 )

• decrease in the complexity of basal dendrites on CA1 pyramidal neurons but the complexity of apical dendrites on CA1 pyramidal neurons is unaffected

abnormal dendritic mushroom spine morphology ( J:345640 )

• mushroom spines show longer heads and lengths and more immature spines

decreased dendritic spine length ( J:345640 )

• decrease in the length of basal dendrites on CA1 pyramidal neurons but the length of apical dendrites on CA1 pyramidal neurons is unaffected

abnormal dendritic stubby spine morphology ( J:345640 )

• while length and complexity of dendrites in the dentate gyrus are not affected, an increase in stubby dendrite spines is seen in the dentate gyrus

abnormal dendritic thin spine morphology ( J:345640 )

• long/thin spines show longer heads and lengths and more immature spines

abnormal nervous system electrophysiology ( J:345640 )

• dentate gyrus granule cells show increased input resistance and increased intrinsic excitability

decreased excitatory postsynaptic current frequency ( J:345640 )

• the frequency of spontaneous excitatory postsynaptic currents is decreased in dentate gyrus granules cells which leads to a decrease in neuronal transmission in dentate gyrus neurons

taste/olfaction

taste/olfaction phenotype ( J:345640 )

N • mice exhibit normal olfaction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:345640