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Former Names STOCK rd8 (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Homozygote x Homozygote (Female x Male) 01-MAR-06 Species laboratory mouse Generation N3F12+ (09-OCT-03)
Generation DefinitionsAppearance
black
Related Genotype: a/aImportant Note
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23ahl, which on this background results in progressive hearing loss with onset after 10 months of age.Development
The Catb (catalase 1 null) mutation was identified in a screen for low catalase activity by Feinstein et al. (1964, 1966) at Argonne National Laboratory of offpring of (C3H x 101) male mice irradiated at Oak Ridge National Laboratory (600 R in fractionated exposures), then crossed to females of the Oak Ridge "multiple recessive testing stock" derived from a cross of NB mice (aabbcch p/cch p d se/d se) and mice of a non-inbred stock homozygous for three of the same recessive mutations, as well as for s, from which mice homozygous for all seven mutations were bred and maintained afterward by random breeding (Russell 1951). Putative heterozygotes for catalase deficiency were crossed to normal mice (not clearly identified, but presumably unirradiated progeny of (101 x C3H)F1 X ORNL testing stock), and offspring exhibiting low catalase activity were backcrossed to the heterozygous parent (Feinstein et al. 1966).Catb was subsequently transferred by backcrossing for eight generations onto C3H/HeAnl, a line carrying mouse mammary tumor virus (MMTV) and another line (C3Hf) free of the virus (Feinstein et al. 1978). The Jackson Laboratory received C3HfB/Ga-Catb from Allen H. Gates, then at the University of Rochester, in 1982.Although all C3H strains carry the rd1 (retinal degeneration 1) mutation at Pde6b, the gene encoding the beta subunit of phosphodiesterase 1, retinas of these mice exhibited a peculiar, granular appearance distinct from the usual Pde6brd1 phenotype. F2 progeny of a cross of C3HfB/Ga-Catb and C57BL/6J mice exhibited three retinal phenotypes: 1) normal; 2) patches of pigment deposition and large, diffuse pigmented regions typical Pde6brd1 homozygotes; and 3) small, discrete, light-colored dots throughout the fundus. Mice exhibiting the last phenotype were intercrossed among themselves to produce a stock homozygous for Mfrprd6 and for the wild-type allele at Pde6b. During this process, a separate mutation with a distinct map position was identified and characterized as Crb1rd8. STOCK Crb1rd8 Mfrprd6/J (stock #004299) is homozygous for both Mfrprd6 and Crb1rd8 on this mixed genetic background that derived in part from C57BL/6J, C3H, 101, and a linkage testing stock derived from non-inbred stocks. In order to isolate Mfrprd6 and Crb1rd8 this strain was backcrossed to C57BL/6J, and selection for either Mfrprd6 or Crb1rd8 yielded B6.C3Ga-Mfrprd6/J (stock #003684) and STOCK Crb1rd8/J (stock #003392) respectively.
| Control | ||
|---|---|---|
| See control note: | C57BL/6J (Stock Number 000664) is only an approximate control for this stock, whose genetic background is ~87.5% C57BL/6J and ~12.5% C3HfB/Ga. | |
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
Strains carrying Cdh23ahl allele
001137 129P1/ReJ 000690 129P3/J 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 004502 B6;AKR-Lxl2/GrsrJ 001026 BALB/cByJ 000653 BUB/BnJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 004764 C57BL/6J-Cdh23v-8J/J 003129 C57BL/6J-Epha4rb-2J/GrsrJ 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Kcnq2Nmf134/J 004811 C57BL/6J-nmf110/J 004812 C57BL/6J-nmf111/J 004747 C57BL/6J-nmf118/J 004656 C57BL/6J-nmf88/J 004391 C57BL/6J-Chr 13A/J/NaJ 004385 C57BL/6J-Chr 7A/J/NaJ 000662 C57BLKS/J 000667 C57BR/cdJ 000668 C57L/J 000669 C58/J 010614 CBACa.B6-Cdh23ahl/Kjn 000657 CE/J 000670 DBA/1J 001140 DBA/1LacJ 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 002106 KK/HlJ 000675 LG/J 000676 LP/J 000677 MA/MyJ 001976 NOD/ShiLtJ 002050 NOR/LtJ 000679 P/J 002747 SENCARB/PtJ 002335 SKH2/J View Strains carrying Cdh23ahl (41 strains)
Strains carrying Crb1rd8 allele
005711 B6.129P2-Prkcqtm1Litt/J 004852 B6;129-Crb1rd8/J View Strains carrying Crb1rd8 (2 strains)
Strains carrying other alleles of Cdh23
001137 129P1/ReJ 000690 129P3/J 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 002552 B6(V)-Cdh23v-2J/J 002756 B6.CAST-Cdh23Ahl+/Kjn 010615 B6.CBACa-Cdh23CBA/CaJ/Kjn 004502 B6;AKR-Lxl2/GrsrJ 002432 B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J 001026 BALB/cByJ 000653 BUB/BnJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 003129 C57BL/6J-Epha4rb-2J/GrsrJ 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Kcnq2Nmf134/J 004811 C57BL/6J-nmf110/J 004812 C57BL/6J-nmf111/J 004747 C57BL/6J-nmf118/J 004656 C57BL/6J-nmf88/J 004391 C57BL/6J-Chr 13A/J/NaJ 004385 C57BL/6J-Chr 7A/J/NaJ 000662 C57BLKS/J 000667 C57BR/cdJ 000668 C57L/J 000669 C58/J 010614 CBACa.B6-Cdh23ahl/Kjn 005016 CByJ;B6-Cdh23v-10J/J 000657 CE/J 000670 DBA/1J 001140 DBA/1LacJ 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 002106 KK/HlJ 000675 LG/J 000676 LP/J 000677 MA/MyJ 001976 NOD/ShiLtJ 002050 NOR/LtJ 000679 P/J 002747 SENCARB/PtJ 002335 SKH2/J 000275 V/LeJ View Strains carrying other alleles of Cdh23 (48 strains)
Strains carrying other alleles of Crb1
005711 B6.129P2-Prkcqtm1Litt/J 004852 B6;129-Crb1rd8/J View Strains carrying other alleles of Crb1 (2 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
Leber Congenital Amaurosis 8; LCA8 5
5 Conditionally targeted allele(s) View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
Crb1rd8/Crb1rd8
STOCK Crb1rd8/J
- vision/eye phenotype
- abnormal ocular fundus morphology
- mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes (MGI Ref ID J:85459)
- abnormal retina morphology
- retinal thinning in both the inner and outer segment is observed (MGI Ref ID J:85459)
- abnormal Muller cell morphology
- Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice (MGI Ref ID J:85459)
- abnormal retina outer limiting membrane morphology
- the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks (MGI Ref ID J:85459)
- abnormal retinal photoreceptor morphology
- the photoreceptor lamellae breaks down (MGI Ref ID J:85459)
- abnormal photoreceptor inner segment morphology
- short photoreceptor inner segment
- at 4 weeks the photoreceptor inner segments are 25% shorter (MGI Ref ID J:85459)
- decreased retinal photoreceptor cell number
- in the region of focal degeneration photoreceptors are lost (MGI Ref ID J:85459)
- photoreceptor outer segment degeneration
- short photoreceptor outer segment
- the photoreceptor outer segments are shortened (MGI Ref ID J:85459)
- thin retinal outer nuclear layer
- in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei (MGI Ref ID J:85459)
- nervous system phenotype
- abnormal Muller cell morphology
- Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice (MGI Ref ID J:85459)
- abnormal retinal photoreceptor morphology
- the photoreceptor lamellae breaks down (MGI Ref ID J:85459)
- abnormal photoreceptor inner segment morphology
- short photoreceptor inner segment
- at 4 weeks the photoreceptor inner segments are 25% shorter (MGI Ref ID J:85459)
- decreased retinal photoreceptor cell number
- in the region of focal degeneration photoreceptors are lost (MGI Ref ID J:85459)
- photoreceptor outer segment degeneration
- short photoreceptor outer segment
- the photoreceptor outer segments are shortened (MGI Ref ID J:85459)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Crb1rd8/Crb1rd8
involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ
- vision/eye phenotype
- abnormal retina morphology
- 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background (MGI Ref ID J:85459)
Crb1rd8/Crb1rd8
B6.Cg-Crb1rd8
- vision/eye phenotype
- *normal* vision/eye phenotype
- mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background (MGI Ref ID J:85459)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Cdh23ahl related
Crb1rd8 relatedNeurobiology Research
Hearing Defects
Age related hearing loss
Sensorineural Research
Hearing Defects
Age related hearing loss
Cell Biology Research
Defects in Cell Adhesion Molecules
Developmental Biology Research
Eye Defects
Mouse/Human Gene Homologs
Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)
Sensorineural Research
Retinal Degeneration
| Allele Symbol | Crb1rd8 | ||
|---|---|---|---|
| Allele Name | retinal degeneration 8 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | nmf144; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | Crb1, crumbs homolog 1 (Drosophila) | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 7530426H14Rik; A930008G09Rik; LCA8; RIKEN cDNA 7530426H14 gene; RIKEN cDNA A930008G09 gene; RP12; | ||
| Molecular Note | The mutation in the rd8 mouse has been identified as a single base deletion in the Crb1 gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein. [MGI Ref ID J:85459] | ||
| Allele Symbol | Cdh23ahl | ||
| Allele Name | age related hearing loss 1 | ||
| Allele Type | QTL | ||
| Common Name(s) | Cdh23753A; mdfw; | ||
| Strain of Origin | multiple strains | ||
| Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 4930542A03Rik; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; sals; salsa; v; waltzer; | ||
| Molecular Note | Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has identified an association between ahl and a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7 and reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: C3H/HeSnJ, I/LnJ,YBR/Ei, MRL/MpJ. [MGI Ref ID J:86905] | ||
Mehalow AK; Kameya S; Smith RS; Hawes NL; Denegre JM; Young JA; Bechtold L; Haider NB; Tepass U; Heckenlively JR; Chang B; Naggert JK; Nishina PM. 2003. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet 12(17):2179-89. [PubMed: 12915475] [MGI Ref ID J:85459]
Cdh23ahl relatedCrb1rd8 relatedDavis RR; Newlander JK; Ling X; Cortopassi GA; Krieg EF; Erway LC. 2001. Genetic basis for susceptibility to noise-induced hearing loss in mice. Hear Res 155(1-2):82-90. [PubMed: 11335078] [MGI Ref ID J:69679]
Di Palma F; Pellegrino R; Noben-Trauth K. 2001. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 281(1-2):31-41. [PubMed: 11750125] [MGI Ref ID J:73941]
Han F; Yu H; Tian C; Chen HE; Benedict-Alderfer C; Zheng Y; Wang Q; Han X; Zheng QY. 2010. A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J :. [PubMed: 20644563] [MGI Ref ID J:174758]
Johnson KR; Erway LC; Cook SA; Willott JF; Zheng QY. 1997. A major gene affecting age-related hearing loss in C57BL/6J mice Hear Res 114(1-2):83-92. [PubMed: 9447922] [MGI Ref ID J:44966]
Johnson KR; Longo-Guess C; Gagnon LH; Yu H; Zheng QY. 2008. A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics 92(4):219-25. [PubMed: 18662770] [MGI Ref ID J:139223]
Johnson KR; Yu H; Ding D; Jiang H; Gagnon LH; Salvi RJ. 2010. Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice. Hear Res 268(1-2):85-92. [PubMed: 20470874] [MGI Ref ID J:163035]
Johnson KR; Zheng QY; Bykhovskaya Y; Spirina O; Fischel-Ghodsian N. 2001. A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 27(2):191-4. [PubMed: 11175788] [MGI Ref ID J:67312]
Johnson KR; Zheng QY; Noben-Trauth K. 2006. Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091(1):79-88. [PubMed: 16579977] [MGI Ref ID J:110459]
Johnson KR; Zheng QY; Weston MD; Ptacek LJ; Noben-Trauth K. 2005. The Mass1(frings) mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85(5):582-90. [PubMed: 15820310] [MGI Ref ID J:97534]
Keithley EM; Canto C; Zheng QY; Fischel-Ghodsian N; Johnson KR. 2004. Age-related hearing loss and the ahl locus in mice. Hear Res 188(1-2):21-8. [PubMed: 14759567] [MGI Ref ID J:87783]
Liu X; Bulgakov OV; Darrow KN; Pawlyk B; Adamian M; Liberman MC; Li T. 2007. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A 104(11):4413-8. [PubMed: 17360538] [MGI Ref ID J:118927]
Manji SS; Williams LH; Miller KA; Ooms LM; Bahlo M; Mitchell CA; Dahl HH. 2011. A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. PLoS One 6(3):e17607. [PubMed: 21423608] [MGI Ref ID J:171701]
Mathews CE; Leiter EH. 1999. Resistance of ALR/Lt islets to free radical-mediated diabetogenic stress is inherited as a dominant trait. Diabetes 48(11):2189-96. [PubMed: 10535453] [MGI Ref ID J:109893]
Nadeau JH. 2003. Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 13(3):290-5. [PubMed: 12787792] [MGI Ref ID J:88012]
Noben-Trauth K; Latoche JR; Neely HR; Bennett B. 2010. Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of mice. PLoS One 5(7):e11459. [PubMed: 20628639] [MGI Ref ID J:163117]
Noben-Trauth K; Zheng QY; Johnson KR. 2003. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35(1):21-3. [PubMed: 12910270] [MGI Ref ID J:86905]
Noben-Trauth K; Zheng QY; Johnson KR; Nishina PM. 1997. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44(3):266-72. [PubMed: 9325047] [MGI Ref ID J:38429]
Perrin BJ; Sonnemann KJ; Ervasti JM. 2010. beta-actin and gamma-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. PLoS Genet 6(10):e1001158. [PubMed: 20976199] [MGI Ref ID J:167543]
Vazquez AE; Jimenez AM; Martin GK; Luebke AE; Lonsbury-Martin BL. 2004. Evaluating cochlear function and the effects of noise exposure in the B6.CAST+Ahl mouse with distortion product otoacoustic emissions. Hear Res 194(1-2):87-96. [PubMed: 15276680] [MGI Ref ID J:117746]
Zheng QY; Johnson KR. 2001. Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. Hear Res 154(1-2):45-53. [PubMed: 11423214] [MGI Ref ID J:70964]
Zilberstein Y; Liberman MC; Corfas G. 2012. Inner hair cells are not required for survival of spiral ganglion neurons in the adult cochlea. J Neurosci 32(2):405-10. [PubMed: 22238076] [MGI Ref ID J:179911]
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269] [MGI Ref ID J:156373]
Lakowski J; Baron M; Bainbridge J; Barber AC; Pearson RA; Ali RR; Sowden JC. 2010. Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells. Hum Mol Genet :. [PubMed: 20858907] [MGI Ref ID J:165574]
Won J; Shi LY; Hicks W; Wang J; Hurd R; Naggert JK; Chang B; Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384. [PubMed: 21052544] [MGI Ref ID J:166679]
Animal Health Reports
Room Number A1
Colony Maintenance
Mating System Homozygote x Homozygote (Female x Male) 01-MAR-06
| Pricing for USA, Canada and Mexico shipping destinations |
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Price (US dollars $) Gender Genotypes Provided Individual Mouse $125.00 Female or Male Homozygous for Crb1rd8
Pairs /Price (US dollars $) Pair Genotype $250.00 Homozygous for Crb1rd8 x Homozygous for Crb1rd8 Standard Supply
Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Pricing for International shipping destinations |
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Price (US dollars $) Gender Genotypes Provided Individual Mouse $162.50 Female or Male Homozygous for Crb1rd8
Pairs /Price (US dollars $) Pair Genotype $325.00 Homozygous for Crb1rd8 x Homozygous for Crb1rd8 Standard Supply
Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
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Repository-Live. The Repository Strains represent an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. We treat orders for these strains as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Control | ||
|---|---|---|
| See control note: | C57BL/6J (Stock Number 000664) is only an approximate control for this stock, whose genetic background is ~87.5% C57BL/6J and ~12.5% C3HfB/Ga. | |
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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