Phenotypes associated with this allele

• Allele Symbol: Dp(7Herc2-Mkrn3)1Taku
• Allele Name: duplication, Chr 7, Toru Takumi 1
• Allele ID: MGI:4359729
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Dp(7Herc2-Mkrn3)1Taku/0	B6J.129S7-Dp(7Herc2-Mkrn3)1Taku	MGI:5755137
ot2	Dp(7Herc2-Mkrn3)1Taku/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:4359732
ot3	Dp(7Herc2-Mkrn3)1Taku/0	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5461653

Genotype
MGI:5755137

ot1

• Allelic Composition: Dp(7Herc2-Mkrn3)1Taku/0
• Genetic Background: B6J.129S7-Dp(7Herc2-Mkrn3)1Taku

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

behavior/neurological

abnormal eye blink conditioning behavior ( J:225285 )

♂ • mice with a paternally inherited duplication (patDp/+) exhibit impaired delay eye blink conditioning, showing fewer conditioned responses than wild-type mice

♂ • impairments in learning in patDp/+ mice are specific to de novo acquisition and are not accompanied by deficiencies in blink representation, extinction, or re-acquisition

abnormal locomotor behavior ( J:225285 )

• patDp/+ mice exhibit a greater stance width in the forelimbs during locomotion, longer stride length, reduced stride frequency, and enhanced propulsion duration, indicating a mild motor impairment

long stride length ( J:225285 )

• patDp/+ mice show a longer stride length

nervous system

abnormal Purkinje cell innervation ( J:225285 )

• young patDP/+ mice exhibit a higher number of Purkinje cells that are innervated by multiple climbing fibers than in wild-type mice, suggesting impaired synaptic pruning, while adults mice show climbing fiber elimination, a mild impairment of the pruning process persists

• however, patDP/+ mice do not exhibit cerebellar or Purkinje cell dendrite abnormalities

abnormal long-term depression ( J:225285 )

• long-term depression at cerebellar parallel fiber-Purkinje cell synapses is impaired, however LTP is unaffected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:225285

Genotype
MGI:4359732

ot2

• Allelic Composition: Dp(7Herc2-Mkrn3)1Taku/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

nervous system phenotype ( J:151648 )

N • mice with a maternally (matDp/+) and paternally (patDp/+) inherited duplication bred normally and were fertile

N • nosignificant abnormality was detected in H&E-stained sections of the olfactory bulb, cerebral cortex, hippocampus, amygdala, corpus callosum, and cerebellum either macroscopically or at the microscopic level

N • no anatomical nor functional defects are found of the olfactory system in paternally inherited duplication bred mice

growth/size/body

increased susceptibility to age related obesity ( J:151648 )

• the patDp/+ male mice began to show an increase in body weight compared to wild-type (WT) mice after 15 weeks, and the body weight of patDp/+ was significantly greater than that of the WT after 20 weeks

cellular

genetic imprinting ( J:151648 )

• maternal and paternal allele-specific methylation is conserved in the mice with the duplicated allele

behavior/neurological

abnormal cued conditioning behavior ( J:151648 )

• patDp/+ mice showed higher freezing scores in the altered contextual environment than did the WT controls

increased anxiety-related response ( J:151648 )

• the patDp/+ mice show increased anxiety

increased fear-related response ( J:151648 )

• the patDp/+ mice show a generalized fear

increased startle reflex ( J:151648 )

• the patDp/+ mice show increased acoustic startle responce for 110-dB stimulus but not for 12-dB

enhanced coordination ( J:151648 )

• the patDp/+ mice show increased time for latency to fall on rotarod test

abnormal social/conspecific interaction behavior ( J:151648 )

• in mice with a paternally inherited duplication in a three-chamber social interaction test

• patDp/+ mice do not respond as flexibly as WT and matDp/+ mice to a change in situation

• no impariment in spatial learning in patDp/+ mice

decreased vocalization ( J:151648 )

• ultrasonic vocalizations (USVs) of neonatal mice that were separated from their dams are abnormal amoung patDp/+ mice

• the total number of vocalizations ranging from both audible and ultrasonic bands emitted by pairs of patDp/+ mice was significantly decreased compared with that of a WT pair

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:151648

Genotype
MGI:5461653

ot3

• Allelic Composition: Dp(7Herc2-Mkrn3)1Taku/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

homeostasis/metabolism

increased adrenaline level ( J:190050 )

• mice with a maternally inherited duplication (matDp/+) exhibit increased epinephrine levels in the striatum and frontal cortex

• mice with a paternally inherited duplication (patDP/+) exhibit increased epinephrine levels in the cerebellum and cortex

increased dopamine level ( J:190050 )

• both patDp/+ and matDp/+ mice exhibit increased dopamine levels in the striatum and the midbrain and patDp/+ mice also have increased levels in the frontal cortex

• matDp/+ mice exhibit increased DOPAC levels in the striatum while patDp/+ mice exhibit increased levels in the cerebellum, midbrain, and frontal cortex

increased noradrenaline level ( J:190050 )

• matDp/+ mice exhibit increased norepinephrine within the striatal, hippocampal and cerebellar regions

decreased serotonin level ( J:190050 )

• mice with a paternally (patDp/+), but not maternally (matDp/+), inherited duplication exhibit decreased 5HT (serotonin) levels in the hippocampus and midbrain regions

• patDp/+ mice exhibit a decrease in HIAA, a major metabolite of 5HT, in the cortical and striatal regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:190050