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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names C3H/HeSnJ-Cm/J (Changed: 13-MAR-08 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N48F1pN1 Appearance
agouti, circling
Related Genotype: A/A Cm/+
agouti, normal behavior
Related Genotype: A/A +/+Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
Mice heterozygous for the coloboma spontaneous mutation (Cm) show abnormal posture, head shaking or bobbing, and circling. Heterozygous mutant mice are extremely hyperactive, locomotor activity being three times that of normal mice.
Control Information
| Control | ||
|---|---|---|
| 000661 C3H/HeSnJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
assigned by genotype
Cm/+
C3Sn.Cg-Cm/J
- vision/eye phenotype
- coloboma (MGI Ref ID J:72108)
- iris colobomas
- eyelids fail to open (MGI Ref ID J:30380)
- in 27% of heterozygotes one eye fails to open
- hearing/vestibular/ear phenotype
- abnormal cochlear hair cell morphology (MGI Ref ID J:72108)
- decreased cochlear outer hair cell number (MGI Ref ID 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 (MGI Ref ID J:72108)
- extra hair cells in the inner hair cell row are seen in the base and apex
- increased cochlear outer hair cell number (MGI Ref ID 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 (MGI Ref ID 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
- head bobbing (MGI Ref ID 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
- nervous system phenotype
- abnormal cochlear hair cell morphology (MGI Ref ID J:72108)
- decreased cochlear outer hair cell number (MGI Ref ID 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 (MGI Ref ID J:72108)
- extra hair cells in the inner hair cell row are seen in the base and apex
- increased cochlear outer hair cell number (MGI Ref ID 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 (MGI Ref ID 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
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype (MGI Ref ID J:30380)
- 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 xenobiotics (MGI Ref ID J:32588)
- the hyperactivity can be diminished by treatment with d-amphetamine, but methylphenidate increases the hyperactivity
- abnormal grip strength (MGI Ref ID J:30380)
- from 13 to 20 days of age pups supported their weight for a significantly shorter time in the bar holding task
- abnormal motor learning (MGI Ref ID 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
- head bobbing (MGI Ref ID 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 (MGI Ref ID J:150776)
- 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
- the hyperactivity can be diminished by treatment with d-amphetamine, but methylphenidate increases the hyperactivity
- induced hyperactivity (MGI Ref ID 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
- growth/size phenotype
- decreased body weight (MGI Ref ID 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
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Cm/+
involves: 101/H * C3H/HeH
- behavior/neurological phenotype
- abnormal posture (MGI Ref ID J:13451)
- heterozygotes display an abnormal postural reaction
- circling (MGI Ref ID J:13451)
- heterozygotes show some tendency for circling
- head bobbing (MGI Ref ID J:1371)
- head shaking (MGI Ref ID J:13451)
- heterozygotes show some tendency for head shaking
- hyperactivity (MGI Ref ID 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
- vision/eye phenotype
- abnormal choroid morphology (MGI Ref ID J:13451)
- the ventral segment of the pigmented choroid, comprising about 25% of the whole, is absent
- abnormal eye distance/ position (MGI Ref ID J:13451)
- in adults the eyeballs are rotated ventrally so that the pupil may be partly hidden by the lower lid
- coloboma (MGI Ref ID J:13451)
- heterozygous mutant eyes show a typical coloboma of the pigmented choroid in which a ventral segment (25% of the whole) is absent
- microphthalmia (MGI Ref ID J:13451)
- eyes of heterozygotes appear smaller than normal at birth
- at P14, heterozygotes are readily identified by their small eyes
- small eyes result from failure of the cornea and lens epithelium to separate during development
- hearing/vestibular/ear phenotype
- circling (MGI Ref ID J:13451)
- heterozygotes show some tendency for circling
- head bobbing (MGI Ref ID J:1371)
- head shaking (MGI Ref ID J:13451)
- heterozygotes show some tendency for head shaking
Cm/+
involves: 101/H * C3H/He * C57BL/6J
- vision/eye phenotype
- abnormal eye morphology (MGI Ref ID J:54907)
- abnormalities are similar to Jag1tm1Grid heterozygous mice
Cm/+
Background Not Specified
- vision/eye phenotype
- abnormal cornea morphology (MGI Ref ID J:99768)
- the cornea has a grayish spot of variable size
- fused cornea and lens (MGI Ref ID J:99768)
- at 14 days of gestation some heterozygotes display an adhesion of the anterior pole of the lens with the thinned cornea, while others display an anterior plug of lens fibers perforating the cornea
- abnormal lens epithelium morphology (MGI Ref ID 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
- abnormal lens vesicle development (MGI Ref ID J:99768)
- first detected at day 11.5 of gestation when lenses are not detatched from the corneal ectoderm and there is epithelial continuity
- coloboma (MGI Ref ID J:99768)
- eyes of newborn heterozygotes are alsways smaller than normal and a coloboma is visible through the transparent eyelid
- delayed eyelid opening (MGI Ref ID 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 (MGI Ref ID J:99768)
- lenticonus (MGI Ref ID J:99768)
- microphthalmia (MGI Ref ID J:99768)
- behavior/neurological phenotype
- head tossing (MGI Ref ID J:99768)
- skin/coat/nails phenotype
- abnormal coat appearance (MGI Ref ID J:99768)
- the coat has a slightly abnormal texture, not as smooth as wildtype
- hearing/vestibular/ear phenotype
- head tossing (MGI Ref ID J:99768)
- nervous system phenotype
- *normal* nervous system phenotype (MGI Ref ID J:40705)
- population excitatory postsynaptic potential and afferent-evoked population spikes in the hippocampus are normal
- abnormal brain wave pattern (MGI Ref ID 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
- abnormal paired-pulse inhibition (MGI Ref ID J:40705)
- dentate population spikes show inhibition of paired-pulse response
- decreased post-tetanic potentiation (MGI Ref ID J:40705)
- posttetanic potentiation in the hippocampal dentate gyrus is significantly attentuated
- reduced long term potentiation (MGI Ref ID J:40705)
- long-term potentiation in the hippocampal dentate gyrus is significantly attenuated
Cm/Cm
involves: 101/H * C3H/HeH
- lethality-prenatal/perinatal
- prenatal lethality (MGI Ref ID J:13451)
- homozygotes are not viable
Cm/Cm
involves: 101/H * C3H/He * C57BL/6J
- lethality-prenatal/perinatal
- embryonic lethality during organogenesis (MGI Ref ID J:54907)
- death occurs at approximately E10.5 from widespread hemorrhages due to vascular defects
- cardiovascular system phenotype
- hemorrhage (MGI Ref ID J:54907)
- at E10.5, all homozygous embryos are hemorrhagic
Cm/Cm
Background Not Specified
- lethality-prenatal/perinatal
- embryonic lethality before somite formation (MGI Ref ID J:99768)
- homozygotes likely die before day 6 in pregnancy
This mouse can be used to support research in many areas including:Cm related
Pde6brd1 relatedDevelopmental Biology Research
Eye Defects
Neurobiology Research
Behavioral and Learning Defects
Vestibular and Hearing Defects
Sensorineural Research
Eye Defects
Vestibular and Hearing Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Cm | ||
|---|---|---|---|
| Allele Name | coloboma | ||
| Allele Type | Radiation induced | ||
| Strain of Origin | (C3H/HeH x 101/H)F1 | ||
| Gene Symbol and Name | Cm, coloboma deletion region | ||
| Chromosome | 2 | ||
| General Note | This allele represents a deletion including Snap25, Plcb1 | ||
| Molecular Note | The deletion map of the Cm locus includes Snap25, Plcb, and some or all of Jag1, and numerous other DNA markers. [MGI Ref ID J:18309] [MGI Ref ID J:54907] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Hess EJ; Collins KA; Copeland NG; Jenkins NA; Wilson MC. 1994. Deletion map of the coloboma (Cm) locus on mouse chromosome 2. Genomics 21(1):257-61. [PubMed: 7916325] [MGI Ref ID J:18309]
Hess EJ; Jinnah HA; Kozak CA; Wilson MC. 1992. Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2. J Neurosci 12(7):2865-74. [PubMed: 1613559] [MGI Ref ID J:1371]
Kiernan AE; Ahituv N; Fuchs H; Balling R; Avraham KB; Steel KP; Hrabe de Angelis M. 2001. The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A 98(7):3873-8. [PubMed: 11259677] [MGI Ref ID J:72108]
Cm relatedAdler M; Sheridan RE; Deshpande SS; Oyler GA. 2001. Neuromuscular transmission and muscle contractility in SNAP-25-deficient coloboma mice. Neurotoxicology 22(6):775-86. [PubMed: 11829411] [MGI Ref ID J:100902]
Colliver TL; Hess EJ; Ewing AG. 2001. Amperometric analysis of exocytosis at chromaffin cells from genetically distinct mice. J Neurosci Methods 105(1):95-103. [PubMed: 11166370] [MGI Ref ID J:102977]
Hess EJ; Collins KA; Copeland NG; Jenkins NA; Wilson MC. 1994. Deletion map of the coloboma (Cm) locus on mouse chromosome 2. Genomics 21(1):257-61. [PubMed: 7916325] [MGI Ref ID J:18309]
Hess EJ; Collins KA; Wilson MC. 1996. Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation. J Neurosci 16(9):3104-11. [PubMed: 8622140] [MGI Ref ID J:32588]
Hess EJ; Jinnah HA; Kozak CA; Wilson MC. 1992. Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2. J Neurosci 12(7):2865-74. [PubMed: 1613559] [MGI Ref ID J:1371]
Heyser CJ; Wilson MC; Gold LH. 1995. Coloboma hyperactive mutant exhibits delayed neurobehavioral developmental milestones. Brain Res Dev Brain Res 89(2):264-9. [PubMed: 8612329] [MGI Ref ID J:30380]
Jones MD; Hess EJ. 2003. Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. Pharmacol Biochem Behav 75(1):209-16. [PubMed: 12759129] [MGI Ref ID J:150776]
Jones MD; Williams ME; Hess EJ. 2001. Abnormal presynaptic catecholamine regulation in a hyperactive SNAP-25-deficient mouse mutant. Pharmacol Biochem Behav 68(4):669-76. [PubMed: 11526963] [MGI Ref ID J:100905]
Jones MD; Williams ME; Hess EJ. 2001. Expression of catecholaminergic mRNAs in the hyperactive mouse mutant coloboma. Brain Res Mol Brain Res 96(1-2):114-21. [PubMed: 11731016] [MGI Ref ID J:100152]
Kiernan AE; Ahituv N; Fuchs H; Balling R; Avraham KB; Steel KP; Hrabe de Angelis M. 2001. The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A 98(7):3873-8. [PubMed: 11259677] [MGI Ref ID J:72108]
Raber J; Mehta PP; Kreifeldt M; Parsons LH; Weiss F; Bloom FE; Wilson MC. 1997. Coloboma hyperactive mutant mice exhibit regional and transmitter-specific deficits in neurotransmission. J Neurochem 68(1):176-86. [PubMed: 8978724] [MGI Ref ID J:37345]
Searle AG. 1966. Coloboma, Cm. Mouse News Lett 35:27. [MGI Ref ID J:13451]
Steffensen SC; Henriksen SJ; Wilson MC. 1999. Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant. Brain Res 847(2):186-95. [PubMed: 10575087] [MGI Ref ID J:58598]
Steffensen SC; Wilson MC; Henriksen SJ. 1996. Coloboma contiguous gene deletion encompassing Snap alters hippocampal plasticity. Synapse 22(3):281-9. [PubMed: 9132997] [MGI Ref ID J:40705]
Theiler K; Varnum DS. 1981. Development of coloboma (Cm/+), a mutation with anterior lens adhesion. Anat Embryol (Berl) 162(1):121-6. [PubMed: 7283170] [MGI Ref ID J:99768]
Wilson MC. 2000. Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. Neurosci Biobehav Rev 24(1):51-7. [PubMed: 10654661] [MGI Ref ID J:60519]
Xue Y; Gao X; Lindsell CE; Norton CR; Chang B; Hicks C; Gendron-Maguire M ; Rand EB ; Weinmaster G ; Gridley T. 1999. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 8(5):723-30. [PubMed: 10196361] [MGI Ref ID J:54907]
Zhang Y; Vilaythong AP; Yoshor D; Noebels JL. 2004. Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. J Neurosci 24(22):5239-48. [PubMed: 15175394] [MGI Ref ID J:96914]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
|
|
|
Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| 000661 C3H/HeSnJ | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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