Phenotypes Associated with This Genotype

Genotype
MGI:5314147

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: B6.Cg-Tbx1^tm1Bem

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

behavior/neurological

abnormal spatial working memory ( J:177772 )

• mutants exhibit lower levels of spontaneous alternations in the T-maze at 0 and 30 second delays compared to wild-type mice; both wild-type and mutant mice reach a chance level at a 60 second delay

increased thigmotaxis ( J:177772 )

• mutants exhibit a higher degree of thigmotaxis in the inescapable open field than wild-type mice

• however, mutants are indistinguishable in anxiety-related behaviors in the elevated plus maze from wild-type mice

abnormal response to novel object ( J:177772 )

• mutants initially exhibit higher levels of contact with a novel, non-mouse object compared with wild-type mice

abnormal motor capabilities/coordination/movement ( J:177772 )

• in the T-maze, mutants visit the same arms across trials more often than wild-type mice when mutants show spontaneous alternation (0 second delay) but not when they do not show spontaneous alternation at a 60 second delay, indicating a repetitive behavioral tendency

abnormal social/conspecific interaction behavior ( J:177772 )

• mutants exhibit lower levels of active and passive affiliative social interaction at 2 months of age, but no alterations in aggression, olfactory investigation or motor behavior

decreased vocalization ( J:177772 )

• mutant pups are impaired in complex patterns of vocalization but not simple vocal patterns

• pups exhibit vocalization less frequently in complex, two-syllable, composite, frequency steps and flat, and for shorter duration in harmonics, two-syllable, composite, and frequency steps

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:177772