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Strain Name: |
C3Sn.Cg-Cm/J |
Stock Number: |
001547 |
Availability:
| Repository-Cryopreserved |
| Former Name |
C3H/HeSnJ-Cm/J (Changed: 13-MAR-08
)
|
| Genes & Alleles |
Cm;
Pde6b;
Pde6brd1;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Congenic |
| Additional information on
JAX® GEMM® Strains. |
| Type |
JAX® GEMM® Strain -
Mutant Strain |
| Type |
JAX® GEMM® Strain -
Spontaneous Mutation |
| 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.
Strain 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.
Mammalian Phenotype Terms assigned by genotype
Cm/+
C3Sn.Cg-Cm/J
- vision/eye phenotype
- coloboma
(MGI Ref ID J:72108)
- 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
- 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
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 head movements
(MGI Ref ID J:13451)
- abnormal posture
(MGI Ref ID J:13451)
- circling
(MGI Ref ID J:13451)
- hyperactivity
(MGI Ref ID J:1371)
- extremely hyperactive, locomotor activity being three times that of normal mice
- 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
- microphthalmia
(MGI Ref ID J:13451)
- eyes of heterozygotes look smaller at birth
- hearing/vestibular/ear phenotype
- circling
(MGI Ref ID J:13451)
- head bobbing
(MGI Ref ID J:13451)
- head shaking
(MGI Ref ID J:13451)
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)
Cm/Cm
involves: 101/H * C3H/HeH
- lethality-prenatal/perinatal
- prenatal lethality
(MGI Ref ID J:13451)
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
|
Gene & Allele Details
| Allele Symbol |
Cm |
| Allele Name |
coloboma |
| Strain of Origin | (C3H/HeH x 101/H)F1 |
| 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 |
| Common Name(s) |
rd;
rd-1;
rd1;
rodless retina;
|
Control Information
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
Strains carrying other alleles of Pde6b
View Strains carrying other alleles of Pde6b (8 strains)
Additional Web Information
Congenic Nomenclature
Research Applications
This mouse can be used to support research in many areas including:
Cm related
Developmental Biology Research
Eye Defects
Neurobiology Research
Behavioral and Learning Defects
Vestibular and Hearing Defects
Sensorineural Research
Eye Defects
Vestibular and Hearing Defects
Pde6brd1 related
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
References
Additional References
Price and Supply Information
| Strain Name: |
C3Sn.Cg-Cm/J |
| Stock Number: |
001547 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination.
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
|
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
|
|---|
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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.
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