IMPC phenotypes (gene matching)
- increased circulating triglyceride level / IMPC
C3HeB/FeJ-Tmc1Mhdabth/Ieg
| Status | Available to order |
| EMMA ID | EM:00033 |
| International strain name | C3HeB/FeJ-Tmc1Mhdabth/Ieg |
| Alternative name | Beethoven, Bth |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Tmc1Mhdabth |
| Gene/Transgene symbol | Tmc1 |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | Chromosomal location 19. |
| Phenotypic information | Progressive hearing loss, progressive cochlear hair-cell degeneration. |
| Breeding history | More than 5 times backcrossed to C3HeB/FeJ. |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (gene matching)
- cochlear degeneration / MGI
- organ of Corti degeneration / MGI
- abnormal stria vascularis morphology / MGI
- abnormal gait / MGI
- abnormal hearing physiology / MGI
- deafness / MGI
- abnormal motor capabilities/coordination/movement / MGI
- abnormal ear morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal otolith morphology / MGI
- abnormal tectorial membrane morphology / MGI
- abnormal scala media morphology / MGI
- nervous system phenotype / MGI
- abnormal organ of Corti supporting cell morphology / MGI
- abnormal Deiters cell morphology / MGI
- vestibular saccular macula degeneration / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal hair cell mechanoelectric transduction / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- Deiters cell degeneration / MGI
- head tossing / MGI
- hearing/vestibular/ear phenotype / MGI
- behavior/neurological phenotype / MGI
- impaired hearing / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.;Vreugde Sarah, Erven Alexandra, Kros Corné J, Marcotti Walter, Fuchs Helmut, Kurima Kiyoto, Wilcox Edward R, Friedman Thomas B, Griffith Andrew J, Balling Rudi, Hrabé De Angelis Martin, Avraham Karen B, Steel Karen P, ;2002;Nature genetics;30;257-8; 11850623
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.;Noguchi Yoshihiro, Kurima Kiyoto, Makishima Tomoko, de Angelis Martin Hrabé, Fuchs Helmut, Frolenkov Gregory, Kitamura Ken, Griffith Andrew J, ;2006;Genetics;173;2111-9; 16648588