Analysis Tools|
Allele Symbol Allele Name Allele ID |
Cm coloboma MGI:1861106 |
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| Summary |
12 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• death occurs at approximately E10.5 from widespread hemorrhages due to vascular defects
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• at E10.5, all homozygous embryos are hemorrhagic
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes likely die before day 6 in pregnancy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Inner ear defects in Cm/+ mice
| 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
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• the hyperactivity can be diminished by treatment with d-amphetamine, but methylphenidate increases the hyperactivity
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• amphetamine-treated mice exhibit a reduction in locomotor activity unlike similarly treated wild-type mice
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• 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
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• from 13 to 20 days of age pups supported their weight for a significantly shorter time in the bar holding task
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• 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
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• 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)
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• 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
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• 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
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• extra hair cells in the inner hair cell row are seen in the base and apex
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• 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
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• 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
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• 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
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• extra hair cells in the inner hair cell row are seen in the base and apex
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• 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
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• 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
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• iris colobomas
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• in 27% of heterozygotes one eye fails to open
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• 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
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• extracellular dopamine levels are increased more than 80% compared to in wild-type mice
• however, dopamine extraction fraction is normal
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abnormalities are similar to Jag1tm1Grid heterozygous mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes display an abnormal postural reaction
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• heterozygotes show some tendency for head shaking
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• 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
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• in adults the eyeballs are rotated ventrally so that the pupil may be partly hidden by the lower lid
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• 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)
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• the ventral segment of the pigmented choroid, comprising about 25% of the whole, is absent
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• heterozygous mutant eyes show a typical coloboma of the pigmented choroid in which a ventral segment (25% of the whole) is absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the cornea has a grayish spot of variable size
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• 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
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• at 14 days of gestation some heterozygotes display an adhesion of the anterior pole of the lens with the thinned cornea
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• first detected at day 11.5 of gestation when lenses are not detatched from the corneal ectoderm and there is epithelial continuity
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• 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
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• eyes of newborn heterozygotes are always smaller than normal and a coloboma is visible through the transparent eyelid
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• eyelids may remain closed in adults or may be opened slightly, and the pupil is often partly hidden behind the lower eyelid
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| N |
• population excitatory postsynaptic potential and afferent-evoked population spikes in the hippocampus are normal
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• 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
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• long-term potentiation in the hippocampal dentate gyrus is significantly attenuated
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• posttetanic potentiation in the hippocampal dentate gyrus is significantly attentuated
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• dentate population spikes show inhibition of paired-pulse response
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• the coat has a slightly abnormal texture, not as smooth as wildtype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• amphetamine-treated mice fail to exhibit a change in locomotor activity unlike similarly treated wild-type mice or Cm heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• amphetamine-treated mice exhibit a normal increase in locomotor activity
• locomotor activity is normal compared with wild-type mice
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• mice exhibit reduced activity compared with Cm heterozygotes
• however, locomotor activity is normal compared with wild-type mice
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| N |
• extracellular dopamine levels are normal compared with wild-type mice
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• extracellular dopamine levels are reduced compared to in Cm heterozygotes
• however, extracellular dopamine levels are normal compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the hyperactivity and suppressive effect of amphetamines found in the Cm/+ mice is rescued by homozygous expression of this transgene
(J:32588)
• tail-pinched induced theta wave in halothane anesthetized mice is normal, unlike that of Cm/+ mice without the transgene
(J:58598)
• 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)
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• despite homozygous expression of this transgene, these mice still display the head bobbing phenotype of Cm/+
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• sunken, closed eyes characteristic of Cm/+ mice are still found despite the homozygous presence of this transgene
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• while these mice display hyperactivity, it is decreased relative to Cm/+ mice without the transgene
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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