IMPC phenotypes (gene matching)
C3H/HeH;C57BL/6J-Pde6b+Slc4a10Leu617Pro/H
| Status | Available to order |
| EMMA ID | EM:15940 |
| Citation information | RRID:IMSR_EM:15940 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 | C3H/HeH;C57BL/6J-Pde6b+Slc4a10Leu617Pro/H |
| Alternative name | C3H/HeH;C57BL/6J-Pde6b<+>Slc4a10 |
| Strain type | Induced Mutant Strains |
| Allele/Transgene symbol | Slc4a10Leu617Pro |
| Gene/Transgene symbol | Slc4a10 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This line originates from MUTA-G1-C3PDE/174.2d - the offspring of a C57BL/6J male that received ENU mated to C3PDE females (the "sighted" C3H female strain (i.e. the congenic C3H stock carrying the BALB/c version of the Pde6b gene)). After a backcross to daughters, the line was maintained by intercrossing, followed by five generations of outcrossing to C3H/HeH and finally one generation of crossing to C3PDE. A mouse model of age-related hearing loss. SNP; c.1850T>C change leading to a L617P substitution. The trombone mutation has been identified as c.1940T to C in Slc4a10. |
| Phenotypic information | A mouse model of age-related hearing loss. |
| Breeding history | This line originates from MUTA-G1-C3PDE/174.2d - the offspring of a C57BL/6J male that received ENU mated to C3PDE females (the "sighted" C3H female strain (i.e. the congenic C3H stock carrying the BALB/c version of the Pde6b gene)). After a backcross to daughters, the line was maintained by intercrossing, followed by five generations of outcrossing to C3H/HeH and finally one generation of crossing to C3PDE. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI phenotypes (gene matching)
- abnormal choroid plexus morphology / MGI
- abnormal brain ventricle morphology / MGI
- decreased anxiety-related response / MGI
- abnormal response to new environment / MGI
- premature death / MGI
- decreased susceptibility to pharmacologically induced seizures / MGI
- abnormal response to novel object / MGI
- abnormal pH regulation / MGI
- abnormal neuron physiology / MGI
- impaired hearing / MGI
- slow postnatal weight gain / MGI
Literature references
- Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441