- decreased body length / IMPC
- increased monocyte cell number / IMPC
- abnormal auditory brainstem response / IMPC
- decreased total retina thickness / IMPC
- abnormal eye anterior chamber depth / IMPC
- abnormal retina outer nuclear layer morphology / IMPC
- decreased lymphocyte cell number / IMPC
- hyperactivity / IMPC
- increased vertical activity / IMPC
- short tibia / IMPC
- increased circulating triglyceride level / IMPC
- decreased circulating creatinine level / IMPC
B6.129P2-Cstbtm2Yah/Orl
| Status | Available to order |
| EMMA ID | EM:04463 |
| Citation information | RRID:IMSR_EM:04463 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129P2-Cstbtm2Yah/Orl |
| Alternative name | CSTB<5HP> |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Cstbtm2Yah |
| Gene/Transgene symbol | Cstb |
Information from provider
| Provider | Yann Herault |
| Provider affiliation | CNRS IEM UMR 6218 |
| Genetic information | Insertion by homologous recombination of a targeting vector containing loxP site in the locus of Cstb gene (MMU10), with duplication of this gene. |
| Phenotypic information | Duplication of the Cstb gene. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | homozygous C57BL/6J males, wild-type C57BL/6J females |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Unverricht-Lundborg disease / Orphanet_308
- Autosomal recessive hypohidrotic ectodermal dysplasia / Orphanet_248
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- myoclonus / MGI
- abnormal cerebellum morphology / MGI
- cerebellum hypoplasia / MGI
- abnormal cornea morphology / MGI
- increased incidence of corneal inflammation / MGI
- corneal opacity / MGI
- corneal scarring / MGI
- ataxia / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- abnormal apoptosis / MGI
- seizures / MGI
- nervous system phenotype / MGI
- abnormal nervous system physiology / MGI
- abnormal cerebellar granule cell morphology / MGI
- abnormal brain wave pattern / MGI
- abnormal eye physiology / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- uveitis / MGI
- facial muscle spasm / MGI
Information on how we integrate external resources can be found here
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