Phenotypes associated with this allele

• Allele Symbol: Tbr1⁺
• Allele Name: wild type
• Allele ID: MGI:2433879
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	\Tbr1^tm1Jlr/\Tbr1^+	B6.129X1-Tbr1^tm1Jlr	MGI:5752313
ht2	\Tbr1^tm1.1(KOMP)Mbp/\Tbr1^+	C57BL/6N-Tbr1^tm1.1(KOMP)Mbp/Ucd	MGI:7551239
ht3	\Tbr1^tm1.1Csbd/\Tbr1^+	involves: C57BL/6J	MGI:6388550

Genotype
MGI:5752313

ht1

• Allelic Composition: \Tbr1^tm1Jlr/\Tbr1⁺
• Genetic Background: B6.129X1-Tbr1^tm1Jlr

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

behavior/neurological

abnormal conditioned taste aversion behavior ( J:208050 )

• in the conditioned taste aversion after training with LiCl injection, mutants do not recognize sucrose as a hazardous food and drink more sucrose than water

• treatment with D-Cycloserine ameliorates the conditioned taste aversion defect

abnormal cued conditioning behavior ( J:208050 )

• mice exhibit defective auditory fear conditioning, showing a lower freezing response when examined for auditory fear memory

• treatment with D-Cycloserine ameliorates the auditory fear conditioning defect

• however, mice do not exhibit deficits in open-field and elevated plus-maze tests or in novel object recognition or contextual fear conditioning

impaired social transmission of food preference ( J:208050 )

• mice do not show a preference for the cued food in an assay for social transmission of food preference

cognitive inflexibility ( J:208050 )

• in the appetitive-motivated T maze, during reversal learning, mice take a longer amount of time to realize that the reward had been changed to the other am in the T-maze indicating impaired cognitive flexibility

• in the two-choice digging test, mice take more trials to relearn that food had been moved to the bowl filled with cinnamon-flavored sawdust

abnormal social investigation ( J:208050 )

• mice show deficits in sociability in the three-chamber test, but not in preference for social novelty

• in a test of reciprocal social interaction, mice spend less time interacting with unfamiliar mice

• treatment with D-Cycloserine, a partial agonist of NMDA receptors, ameliorates the social interaction defects

decreased vocalization ( J:208050 )

• pups isolated from their mothers produce fewer ultrasonic vocalization emissions

nervous system

abnormal anterior commissure morphology ( J:208050 )

• posterior part of the anterior commissure is missing

abnormal amygdala morphology ( J:208050 )

• mice rarely show long processes extending from amygdalar neurons

• amygdalar neurons grown in culture develop multiple axons and each axon is shorter at 4 days in vitro compared to wild-type neurons

• however, cortical and striatal neuron morphology is normal

abnormal innervation ( J:208050 )

• the inter-amygdalar connections are greatly diminished

• defects in the connection between the ipsilateral central amygdala and basolateral amygdala

abnormal neuron physiology ( J:208050 )

• neuronal activation in the amygdala is impaired

• treatment with D-Cycloserine increases neuronal activity in the amygdala

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:208050

Genotype
MGI:7551239

ht2

• Allelic Composition: \Tbr1^{tm1.1(KOMP)Mbp}/\Tbr1⁺
• Genetic Background: C57BL/6N-Tbr1^{tm1.1(KOMP)Mbp}/Ucd
• Cell Lines: DEPD00556_4_B06

Data Sources

IMPC Data for Tbr1

cardiovascular system

hemorrhage ( J:211773 )

IMPC - UCD

embryo

spina bifida ( J:211773 )

IMPC - UCD

homeostasis/metabolism

decreased circulating creatinine level ( J:211773 )

♀

IMPC - UCD

decreased blood urea nitrogen level ( J:211773 )

♀

IMPC - UCD

decreased circulating glucose level ( J:211773 )

♀

IMPC - UCD

nervous system

spina bifida ( J:211773 )

IMPC - UCD

Genotype
MGI:6388550

ht3

• Allelic Composition: \Tbr1^tm1.1Csbd/\Tbr1⁺
• Genetic Background: involves: C57BL/6J

behavior/neurological

abnormal habituation to a new environment ( J:281878 )

♂ • mice show reduced habituation to the novel open-field environment

decreased thigmotaxis ( J:281878 )

♂ • mice spend an increased amount of time in the center of the open-field test, indicating anxiolytic-like behavior

increased anxiety-related response ( J:281878 )

♂ • 3 month old males exhibit enhanced anxiety-like behavior, spending more time in the closed arms and less time in the open arms of the elevated plus-maze test and spending less time in the light chamber of the light-dark test

increased grooming behavior ( J:281878 )

♂ • mice show modestly increased repetitive self-grooming during the light-off period, but not during the light-on period

increased vertical activity ( J:281878 )

♂ • mice show an increase in rearing in Laboras cages during the light-off period, but not during the light-on period

♂ • however, mice show normal levels of locomotor activity in the open-field test

increased locomotor activity ( J:281878 )

♂ • in Laboras cages, mice show modest hyperactivity during the first 6 hours on day 1 (light-off period), although total locomotion over 3 days does not change in light-off or light-on periods

abnormal social/conspecific interaction behavior ( J:281878 )

♂ • 3 month old males exhibit reduced social interaction in direct social-interaction

♂ • however, mice show normal social approach and social novelty recognition in the three-chamber test for social interaction and pups show normal levels of social communication by USVs upon separation from their mothers

nervous system

abnormal brain interneuron morphology ( J:281878 )

• the number of parvalbumin (PV)+ interneurons in superficial cortical layers of the cortex is decreased at 3 months of age, whereas their number is increased in deep cortical layers

• however, no differences in the total numbers of SST+, PV+, or VIP+ interneurons are seen and no difference in the thickness of the neocortex in the prelimbic region of the medial prefrontal cortex at P5

increased excitatory postsynaptic current frequency ( J:281878 )

• increase in frequency, but not amplitude, of spontaneous excitatory postsynaptic currents (sEPSCs) in layer 6 pyramidal neurons at 11-12 weeks of age

• however, no differences in neuronal excitability of mPFC layer 6 pyramidal neurons is seen

increased miniature inhibitory postsynaptic current frequency ( J:281878 )

• increase in the frequency, but not amplitude, of miniature inhibitory postsynaptic currents (mIPSCs) in layer 6 pyramidal neurons at 11-12 weeks of age indicating that inhibitory synaptic transmission onto medial prefrontal cortex (mPFC) layer 6 pyramidal neurons is increased

• increase in the frequency, but not amplitude, of spontaneous inhibitory postsynaptic currents (sIPSCs) in layer 6 pyramidal neurons at 11-12 weeks of age

• however, no differences in the frequency or amplitude of mEPSCs is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:281878