Phenotypes associated with this allele

• Allele Symbol: Cm
• Allele Name: coloboma
• Allele ID: MGI:1861106
• Summary: 12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cm/Cm	involves: 101/H * C3H/He * C57BL/6J	MGI:3583217
hm2	Cm/Cm	involves: 101/H * C3H/HeH	MGI:2175784
hm3	Cm/Cm	Not Specified	MGI:3757861
ht4	Cm/+	C3Sn.Cg-Cm/J	MGI:3717464
ht5	Cm/+	involves: 101/H * C3H/He * C57BL/6J	MGI:3588032
ht6	Cm/+	involves: 101/H * C3H/HeH	MGI:2175785
ht7	Cm/+	Not Specified	MGI:3757850
cx8	Jag1^tm1Grid/Cm	involves: 101/H * 129S1/Sv * C3H/He * C57BL/6 * FVB/N	MGI:3588033
cx9	Cm/+ Drd3^tm1Stl/Drd3^tm1Stl	involves: 101/H * 129S2/SvPas * C3H/HeH * C3H/HeSn * C57BL/6J	MGI:4429963
cx10	Cm/+ Drd2^tm1Low/Drd2^tm1Low	involves: 101/H * 129S2/SvPas * C3H/HeH * C3H/HeSn * C57BL/6J	MGI:4429964
cx11	Cm/+ Tg(Snap25)40Micw/Tg(Snap25)40Micw	involves: C3H/HeJ * C57BL/6J	MGI:3851793
cx12	Cm/+ Tg(Snap25)40Micw/0	involves: C3H/HeJ * C57BL/6J	MGI:3851797

Genotype
MGI:3583217

hm1

• Allelic Composition: Cm/Cm
• Genetic Background: involves: 101/H * C3H/He * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:54907 )

• death occurs at approximately E10.5 from widespread hemorrhages due to vascular defects

cardiovascular system

hemorrhage ( J:54907 )

• at E10.5, all homozygous embryos are hemorrhagic

Genotype
MGI:2175784

hm2

• Allelic Composition: Cm/Cm
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

preweaning lethality, complete penetrance ( J:13451 )

• homozygotes are not viable

Genotype
MGI:3757861

hm3

• Allelic Composition: Cm/Cm
• Genetic Background: Not Specified

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:99768 )

• homozygotes likely die before day 6 in pregnancy

Genotype
MGI:3717464

ht4

• Allelic Composition: Cm/+
• Genetic Background: C3Sn.Cg-Cm/J

Inner ear defects in Cm/+ mice

behavior/neurological

behavior/neurological phenotype ( J:30380 )

N • assessments from 2 to 20 days of age found normal results in the following behavioral tests: crossed extensor reflex, forelimb/hindlimb placing, rooting reflex, negative geotaxis, grasp reflex, vibrissa placing, and eye opening

abnormal behavioral response to xenobiotic ( J:32588 )

• the hyperactivity can be diminished by treatment with d-amphetamine, but methylphenidate increases the hyperactivity

abnormal behavioral response to addictive substance ( J:156905 )

• amphetamine-treated mice exhibit a reduction in locomotor activity unlike similarly treated wild-type mice

abnormal motor learning ( J:30380 )

• heterozygous have a developmental delay in learning to right themselves, righting themselves more slowly at 5 through 9 days of age but righting themselves comparably with wild-type controls from 11 through 13 days of age

decreased grip strength ( J:30380 )

• from 13 to 20 days of age pups supported their weight for a significantly shorter time in the bar holding task

head bobbing ( J:30380 )

• first observed in a minority of heterozygotes at 11 days of age, in half of the pups by 14 days of age, and in all adults

hyperactivity ( J:32588 , J:150776 , J:156905 )

• the hyperactivity can be diminished by treatment with d-amphetamine, but methylphenidate increases the hyperactivity (J:32588)

• all heterozygotes are much more active than wild-type controls and this hyperactivity can be reduced by subcutateous or intracerebroventricular injection of the neurotoxin DSP-4, which depletes norepinephrine (J:150776)

• mice exhibit hyperactivity compared with wild-type mice (J:156905)

• however, treatment with amphetamine reduces locomotor activity (J:156905)

induced hyperactivity ( J:30380 )

• by 11 days of age in increased reactivity to touch is found, with this exaggerated responsiveness increasing at 14 days of age and decreasing at 20 days of age

nervous system

abnormal cochlear hair cell morphology ( J:72108 )

decreased cochlear outer hair cell number ( J:72108 )

• in the basal and middle regions of the cochleas, occasional short regions of only two rows of outer hair cells are present instead of the normal 3

increased cochlear inner hair cell number ( J:72108 )

• extra hair cells in the inner hair cell row are seen in the base and apex

increased cochlear outer hair cell number ( J:72108 )

• the very apical 10-35% of the cochlea, show an increase in outer hair cell rows, having 4-5 rows instead of the normal 3

abnormal synaptic norepinephrine release ( J:150776 )

• brain slices treated with potassium chloride in the presence of calcium give a 35% increase in norepinephrine release from the striatum and nucleus accumbens compared with wild type controls

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:72108 )

decreased cochlear outer hair cell number ( J:72108 )

• in the basal and middle regions of the cochleas, occasional short regions of only two rows of outer hair cells are present instead of the normal 3

increased cochlear inner hair cell number ( J:72108 )

• extra hair cells in the inner hair cell row are seen in the base and apex

increased cochlear outer hair cell number ( J:72108 )

• the very apical 10-35% of the cochlea, show an increase in outer hair cell rows, having 4-5 rows instead of the normal 3

abnormal semicircular canal morphology ( J:72108 )

• anterior and posterior canal truncations near the ampullae, however the lateral canal is normal, and the respective ampullae are small or absent

• when the ampulla is present, the canal is still truncated

vision/eye

iris coloboma ( J:72108 )

• iris colobomas

eyelids fail to open ( J:30380 )

• in 27% of heterozygotes one eye fails to open

growth/size/body

decreased body weight ( J:30380 )

• although the body weight of heterozygotes is comparable to wild-type siblings until 7 days of age, from 7 days of age on they weigh less

homeostasis/metabolism

increased dopamine level ( J:156905 )

• extracellular dopamine levels are increased more than 80% compared to in wild-type mice

• however, dopamine extraction fraction is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
attention deficit hyperactivity disorder		DOID:1094	OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312	J:1371

Genotype
MGI:3588032

ht5

• Allelic Composition: Cm/+
• Genetic Background: involves: 101/H * C3H/He * C57BL/6J

vision/eye

abnormal eye morphology ( J:54907 )

• abnormalities are similar to Jag1^tm1Grid heterozygous mice

Genotype
MGI:2175785

ht6

• Allelic Composition: Cm/+
• Genetic Background: involves: 101/H * C3H/HeH

behavior/neurological

abnormal posture ( J:13451 )

• heterozygotes display an abnormal postural reaction

head bobbing ( J:1371 )

head shaking ( J:13451 )

• heterozygotes show some tendency for head shaking

increased locomotor activity ( J:1371 )

• heterozygotes are extremely hyperactive but maintain normal sleep/wake patterns

• heterozygotes show a >3-fold increase in nocturnal locomotor activity and occasional bursts of daytime activity associated with eating

• in some heterozygotes, locturnal locomotor activity exceeds 10 times that of control littermates

circling ( J:13451 )

• heterozygotes show some tendency for circling

vision/eye

abnormal eye distance/ position ( J:13451 )

• in adults the eyeballs are rotated ventrally so that the pupil may be partly hidden by the lower lid

microphthalmia ( J:1371 , J:13451 )

• at P14, heterozygotes are readily identified by their small eyes (J:1371)

• small eyes result from failure of the cornea and lens epithelium to separate during development (J:1371)

• eyes of heterozygotes appear smaller than normal at birth (J:13451)

abnormal optic choroid morphology ( J:13451 )

• the ventral segment of the pigmented choroid, comprising about 25% of the whole, is absent

choroid coloboma ( J:13451 )

• heterozygous mutant eyes show a typical coloboma of the pigmented choroid in which a ventral segment (25% of the whole) is absent

Genotype
MGI:3757850

ht7

• Allelic Composition: Cm/+
• Genetic Background: Not Specified

vision/eye

abnormal cornea morphology ( J:99768 )

• the cornea has a grayish spot of variable size

cornea perforation ( J:99768 )

• at 14 days of gestation some heterozygotes display an anterior plug of lens fibers perforating the cornea

• at 18 days of gestation, in a more severe case, lens fibers are found to penetrate through a hole in the cornea into the conjunctival sac

fused cornea and lens ( J:99768 )

• at 14 days of gestation some heterozygotes display an adhesion of the anterior pole of the lens with the thinned cornea

abnormal lens vesicle development ( J:99768 )

• first detected at day 11.5 of gestation when lenses are not detatched from the corneal ectoderm and there is epithelial continuity

abnormal lens epithelium morphology ( J:99768 )

• at 18 days of gestation the developing lens can have a cone-like thickening of the anterior lens epithelium or, in a more severe case, lens fibers are found to penetrate through a hole in the cornea into the conjunctival sac

lenticonus ( J:99768 )

coloboma ( J:99768 )

• eyes of newborn heterozygotes are always smaller than normal and a coloboma is visible through the transparent eyelid

microphthalmia ( J:99768 )

delayed eyelid opening ( J:99768 )

• eyelids may remain closed in adults or may be opened slightly, and the pupil is often partly hidden behind the lower eyelid

eyelids fail to open ( J:99768 )

behavior/neurological

head tossing ( J:99768 )

nervous system

nervous system phenotype ( J:40705 )

N • population excitatory postsynaptic potential and afferent-evoked population spikes in the hippocampus are normal

abnormal brain wave pattern ( J:40705 )

• although the EEG activity from the hilar region of the dentate gyrus of halothan anesthetized hemizygotes is normal, tail-pinch induced theta rhythm is significantly reduced in these same mice relative to wild-type

reduced long-term potentiation ( J:40705 )

• long-term potentiation in the hippocampal dentate gyrus is significantly attenuated

decreased post-tetanic potentiation ( J:40705 )

• posttetanic potentiation in the hippocampal dentate gyrus is significantly attentuated

abnormal paired-pulse inhibition ( J:40705 )

• dentate population spikes show inhibition of paired-pulse response

integument

abnormal coat appearance ( J:99768 )

• the coat has a slightly abnormal texture, not as smooth as wildtype

Genotype
MGI:3588033

cx8

• Allelic Composition: Jag1^tm1Grid/Cm
• Genetic Background: involves: 101/H * 129S1/Sv * C3H/He * C57BL/6 * FVB/N

cardiovascular system

intracranial hemorrhage ( J:54907 )

nervous system

intracranial hemorrhage ( J:54907 )

Genotype
MGI:4429963

cx9

• Allelic Composition: Cm/+; Drd3^tm1Stl/Drd3^tm1Stl
• Genetic Background: involves: 101/H * 129S2/SvPas * C3H/HeH * C3H/HeSn * C57BL/6J

behavior/neurological

abnormal behavioral response to addictive substance ( J:156905 )

• amphetamine-treated mice fail to exhibit a change in locomotor activity unlike similarly treated wild-type mice or Cm heterozygotes

Genotype
MGI:4429964

cx10

• Allelic Composition: Cm/+; Drd2^tm1Low/Drd2^tm1Low
• Genetic Background: involves: 101/H * 129S2/SvPas * C3H/HeH * C3H/HeSn * C57BL/6J

behavior/neurological

behavior/neurological phenotype ( J:156905 )

N • amphetamine-treated mice exhibit a normal increase in locomotor activity

N • locomotor activity is normal compared with wild-type mice

decreased locomotor activity ( J:156905 )

• mice exhibit reduced activity compared with Cm heterozygotes

• however, locomotor activity is normal compared with wild-type mice

nervous system

nervous system phenotype ( J:156905 )

N • extracellular dopamine levels are normal compared with wild-type mice

homeostasis/metabolism

decreased dopamine level ( J:156905 )

• extracellular dopamine levels are reduced compared to in Cm heterozygotes

• however, extracellular dopamine levels are normal compared with wild-type mice

Genotype
MGI:3851793

cx11

• Allelic Composition: Cm/+; Tg(Snap25)40Micw/Tg(Snap25)40Micw
• Genetic Background: involves: C3H/HeJ * C57BL/6J

behavior/neurological

behavior/neurological phenotype ( J:32588 , J:58598 )

N • the hyperactivity and suppressive effect of amphetamines found in the Cm/+ mice is rescued by homozygous expression of this transgene (J:32588)

N • tail-pinched induced theta wave in halothane anesthetized mice is normal, unlike that of Cm/+ mice without the transgene (J:58598)

N • paired pulse inhibition is normal and amphetamine treatment does not increase paired-pulse inhibition as it does in Cm/+ mice without the transgene (J:58598)

head bobbing ( J:32588 )

• despite homozygous expression of this transgene, these mice still display the head bobbing phenotype of Cm/+

vision/eye

abnormal eye development ( J:32588 )

• sunken, closed eyes characteristic of Cm/+ mice are still found despite the homozygous presence of this transgene

coloboma ( J:32588 )

Genotype
MGI:3851797

cx12

• Allelic Composition: Cm/+; Tg(Snap25)40Micw/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J

behavior/neurological

hyperactivity ( J:32588 )

• while these mice display hyperactivity, it is decreased relative to Cm/+ mice without the transgene