Phenotypes Associated with This Genotype

Genotype
MGI:5763612

• Allelic Composition: Itpr3^tf/Itpr3^tf
• Genetic Background: BTBR T⁺ Itpr3^tf/J

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

behavior/neurological

impaired social transmission of food preference ( J:138842 )

♂ • mice eat less of the food familiarized by interacting with their demonstrator cage mate than of a completely unfamiliar food

♂ • mice sniff the whiskers and mouth of their demonstrator cage mate less frequently and for shorter periods of time

decreased anxiety-related response ( J:138842 )

♂ • percentage of time spent on the open segments of the elevated zero maze is higher, indicating very low anxiety-like traits

abnormal allogrooming behavior ( J:138842 )

♂ • number of bouts of social grooming, in which one member of the pair grooms the other, is less in 21 day old mice

increased grooming behavior ( J:138842 )

♂ • both juvenile and adult mice exhibit high levels of repetitive self-grooming

abnormal locomotor activation ( J:138842 )

♂ • locomotion and exploratory activity in a novel open field is initially higher, but mice show normal activity levels after habituation

abnormal social investigation ( J:138842 )

♂ • mice show reduced social approach, low reciprocal social interactions and impaired juvenile play

abnormal vocalization ( J:138605 )

• pups show an usual pattern of calls, emitting high levels of harmonics, two-syllable, and composite calls, but minimal numbers of chevron-shaped syllables, upward, downward, and short calls

excessive vocalization ( J:138605 )

• pups call more loudly and more frequently when separated from their mothers and siblings

nervous system

abnormal brain commissure morphology ( J:222265 )

• Probst bundles are present on both sides of the midline in 100% of mice

• no streamline connections between homologous interhemispheric areas via the anterior or hippocampal commissure are seen

• neocortices are not connected by the corpus callosum, through other forebrain commissures, nor via ectopic forebrain connections

absent corpus callosum ( J:222265 )

• agenesis of the corpus callosum

decreased hippocampal commissure size ( J:222265 )

• hippocampal commissure is greatly reduced in size and volume

decreased anterior commissure size ( J:222265 )

• anterior commissure is reduced in size and volume

abnormal cerebral cortex morphology ( J:222265 )

• thickness of V1 cortical area is increased at P7 but not in adults

• changes in cortical thickness is not due to an increase in cell number of a specific cortical laminar population or due to increased apoptosis

abnormal neocortex morphology ( J:222265 )

• the third barrel in row C (C3) of the posterior medial barrel subfield of the neocortex is located in a more medial relative position than in controls

• length of the cortex is reduced at P10, the width is reduced at P22

• the relative size of the posterior medial barrel subfield of the neocortex is reduced at P10 and the relative size of the visual area is reduced at P10 and P22

• V1 area of the neocortex is reduced

• the relative position of V1 and the posterior medial barrel subfield of the neocortex are shifted towards the midline

growth/size/body

increased body weight ( J:138605 )

• mice are heavier than C57BL/6 controls on P4, 6, 8, and 12

increased growth rate ( J:138605 )

• mice show faster growth and development, having a fully developed righting reflex response by P2 compared to P6 in C57BL/6 controls, full negative geotaxis response acquired by P4 versus P8, earlier detachment of pinnae, opening of the eyes and incisor eruption, shorter latencies on the homing test suggesting more rapid development social olfactory and cognitive abilities, accelerated acquisition of various reflexes, and greater response to an acoustic stimulus on P12

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:138605 , J:138842 , J:222265