Phenotypes associated with this allele

• Allele Symbol: Del(7Coro1a-Spn)1Dolm
• Allele Name: deletion, Chr 7, Ricardo Dolmetsch 1
• Allele ID: MGI:5569506
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(7Coro1a-Spn)1Dolm/+	B6N.129P2(Cg)-Del(7Coro1a-Spn)1Dolm	MGI:5571072
ht2	Del(7Coro1a-Spn)1Dolm/+	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6N * CD-1	MGI:5571040
cx3	Del(7Coro1a-Spn)1Dolm/+ Tg(Drd2-EGFP)S118Gsat/0	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6N * CD-1 * FVB/N	MGI:5571091

Genotype
MGI:5571072

ht1

• Allelic Composition: Del(7Coro1a-Spn)1Dolm/+
• Genetic Background: B6N.129P2(Cg)-Del(7Coro1a-Spn)1Dolm

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

behavior/neurological

abnormal response to novel object ( J:210018 )

• mice do not display a preference for novel objects over familiar objects

abnormal habituation to a novel object ( J:210018 )

• mice do not become habituated to novel objects

decreased grooming behavior ( J:210018 )

• decreased self grooming observed in 8-12 week old mice in dark home cage environment

absent startle reflex ( J:210018 )

• mice lack a startle response to sounds at 100 db, 110 db, and 120 db, however, mice respond to air puffs

tremors ( J:210018 )

• tremor exhibited by 19.4% of 8-12 week old mice

impaired coordination ( J:210018 )

• increased hanging observed in 8-12 week old mice in dark home cage environment

abnormal gait ( J:210018 )

• decrease in fluid gait observed in 19.4% of 8-12 week old mice

decreased locomotor activity ( J:210018 )

• hypoactivity initially observed in open-field test in novel environment, however, hypoactivity disappears in first 10 minutes

increased locomotor activity ( J:210018 )

• mice cover 2.5 times more distance than controls as observed in 8-12 week old mice in dark home cage environment

• less resting observed in 8-12 week old mice in dark home cage environment

circling ( J:210018 )

• increase in circling behavior observed in 8-12 week old mice in 18.75% of mice

hearing/vestibular/ear

impaired hearing ( J:210018 )

Genotype
MGI:5571040

ht2

• Allelic Composition: Del(7Coro1a-Spn)1Dolm/+
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6N * CD-1

adipose tissue

abnormal abdominal fat pad morphology ( J:210018 )

• reduction in accumulation of abdominal fat pads

behavior/neurological

tremors ( J:210018 )

hyperactivity ( J:210018 )

growth/size/body

decreased body weight ( J:210018 )

• reduced body weight as compared to controls

• some animals recover to normal body weight as adults

decreased body length ( J:210018 )

• 12.2% reduction in average body length as compared to controls

mortality/aging

premature death ( J:210018 )

• some mice die in the first postnatal weeks

nervous system

decreased brain weight ( J:210018 )

• mildly reduced brain weight and volume in P7 pups, however, brain weight matches controls as mice mature

abnormal corpus callosum morphology ( J:210018 )

• morphological abnormalities in corpus callosum

increased inferior colliculus size ( J:210018 )

• increase in size of superior and inferior colliculi (5.9% and 11.7%, respectively)

increased superior colliculus size ( J:210018 )

• increase in size of superior and inferior colliculi (5.9% and 11.7%, respectively)

abnormal basal ganglion morphology ( J:210018 )

• structural abnormalities in basal ganglia are characterized by expansion in dorsofrontal direction and reduction at ventrocaudal areas

• relative volume is unchanged

abnormal globus pallidus morphology ( J:210018 )

• 2.79% increase in relative volume of globus pallidus

abnormal medium spiny neuron morphology ( J:210018 )

• increased numbers of Drd2+ striatal medium spiny neurons

abnormal nucleus accumbens morphology ( J:210018 )

• 4.83% increase in relative volume of nucleus accumbens

hypothalamus hyperplasia ( J:210018 )

• increase in size of hypothalamus (4.2%)

thalamus hyperplasia ( J:210018 )

• increase in size of thalamus (9.6%)

thickened cerebral cortex ( J:210018 )

• increased thickness in medial areas of cortex

thin cerebral cortex ( J:210018 )

• reduced thickness in lateral and ventral areas of cortex

abnormal excitatory postsynaptic currents ( J:210018 )

• increase in ratio of AMPAR excitatory postsynaptic currents to NMDA receptor-mediated excitatory postsynaptic currents

increased miniature excitatory postsynaptic current frequency ( J:210018 )

• increase in mean miniature excitatory postsynaptic current frequency

decreased paired-pulse facilitation ( J:210018 )

• decrease in paired-pulse ratios across multiple interstimulus intervals

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:210018

Genotype
MGI:5571091

cx3

• Allelic Composition: Del(7Coro1a-Spn)1Dolm/+; Tg(Drd2-EGFP)S118Gsat/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6N * CD-1 * FVB/N

nervous system

abnormal globus pallidus morphology ( J:210018 )

• enlarged globus pallidus at postnatal day 7

abnormal dorsal striatum morphology ( J:210018 )

• increased numbers of Drd2+ cells in ventral and dorsal striatum

abnormal ventral striatum morphology ( J:210018 )

• increased numbers of Drd2+ cells in ventral and dorsal striatum

increased excitatory postsynaptic current frequency ( J:210018 )

• increased excitatory postsynaptic current frequency in Drd2+ medium spiny neurons