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Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F51p Appearance
pigmented, without hair
Related Genotype: a/a Hrhr/HrhrImportant Note
This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by three months of age (Johnson et al. 2000).Description
Mice homozygous for the hr spontaneous mutation have a higher incidence and earlier onset of leukemia, reducible by virus-specific antibody. Deficiency of splenic T helper cells (Ly-1+) may account for low cellular immune response of homozygous mutant mice. The coat is normal on hr/hr mice up to 10 days but then hair is lost from the follicle. Waves of hair growth with few thin fuzzy hairs ocur at monthly intervals for some time but homozygotes eventually become continuously hairless. Vibrissae are repeatedly regrown and shed, becoming more abnormal with age. Toenails are long and curved. There is hyperkeratosis of stratified epithelium and the upper part of hair canals beginning at 14 days. Hair club formation is abnormal. Cysts form from the hyperkeratotic upper part of hair canals and sheaths of abnormal follicles stranded in dermis. Some cysts also form from sebaceous glands. All cysts undergo sebaceous transformation and later keratinization. Black juvenile hair coat and tanning is a dominant trait for this SKH2 substrain. This mutant is for research on ultraviolet radiation induced melanogenesis.
| Control | ||
|---|---|---|
| None Available | ||
| 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 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 003392 STOCK Crb1rd8/J View Strains carrying Cdh23ahl (40 strains)
Strains carrying Hrhr allele
001737 B6.A-H2-T18a.HRS-Hrhr/J 002922 D2.HRS-Hrhr/J 000673 HRS/J 001103 HRS/J-Hrhr Esdb/+ Esdb/J 000147 WLHR/LeJ View Strains carrying Hrhr (5 strains)
Strains carrying mt-Trm2 allele
003070 ALR/LtJ View Strains carrying mt-Trm2 (1 strain)
Strains carrying other alleles of Cdh23
002756 B6.CAST-Cdh23Ahl+/Kjn 002432 B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J 002552 C57BL/6J-Cdh23v-2J/J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 005016 CByJ;B6-Cdh23v-10J/J 000275 V/LeJ View Strains carrying other alleles of Cdh23 (7 strains)
Strains carrying other alleles of Hr
007621 B6.129S6-Hrtm1Cct/J 007622 B6;SJL-Tg(KRT14-Hr)551Cct/J 000758 C57BL/6J-Hbbp Hrrh-7J/J 000266 RHJ/Le 001591 RHJ/LeJ View Strains carrying other alleles of Hr (5 strains)
Strains carrying other alleles of mt-Tr
000646 A/J 003072 ALS/LtJ 001976 NOD/ShiLtJ 000684 NZB/BlNJ View Strains carrying other alleles of mt-Tr (4 strains)
Genetic Quality Control Annual Report
JAX® NOTES, January 1989; 436. Phenotypic abnormalities in hr-locus mutants.
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Alopecia Universalis Congenita; ALUNC - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Atrichia with Papular Lesions; APL - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Hrhr/Hrhr
Background Not Specified
- skin/coat/nails phenotype
- abnormal skin morphology (MGI Ref ID J:2409)
- thickened cutis
- abnormal dermis reticular layer morphology (MGI Ref ID J:2409)
- cystic
- dermal cysts (MGI Ref ID J:14889)
- epidermal hyperplasia (MGI Ref ID J:14940)
- hyperkeratosis (MGI Ref ID J:14940)
- alopecia (MGI Ref ID J:2409)
- beginning ~15 days of age and progressing from nose back
- deformed nails (MGI Ref ID J:2409)
- curved
- endocrine/exocrine gland phenotype
- abnormal mammary gland morphology (MGI Ref ID J:2409)
- small
- nipple at bottom of cup-shaped depression in skin
- no ducts
- sebaceous gland atrophy (MGI Ref ID J:2409)
- reproductive system phenotype
- abnormal mammary gland morphology (MGI Ref ID J:2409)
- small
- nipple at bottom of cup-shaped depression in skin
- no ducts
- behavior/neurological phenotype
- abnormal nursing (MGI Ref ID J:2409)
- failure
Hrhr/Hrhr
HRS/J
- hearing/vestibular/ear phenotype
- absent linear vestibular evoked potential (MGI Ref ID J:116914)
- VESPs are absent at the maximum stimulus intensity used
- tumorigenesis
- leukemia (MGI Ref ID J:5726)
- increased incidence
- increased incidence
- at 8 to 10 months of age 45% of homozygotes have lymphoid leukemia, compared with only 1% in heterozygotes, and approximately 72% of these homozygotes develop myeloid leukemia later in life up to 18 months of age
- hematopoietic system phenotype
- decreased T cell number (MGI Ref ID J:6087)
- of CD5+ T cells
- decreased T cell proliferation (MGI Ref ID J:6375)
- to alloantigens by T helper cells
- increased macrophage cell number (MGI Ref ID J:150402)
- although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes
- immune system phenotype
- decreased T cell number (MGI Ref ID J:6087)
- of CD5+ T cells
- decreased T cell proliferation (MGI Ref ID J:6375)
- to alloantigens by T helper cells
- increased macrophage cell number (MGI Ref ID J:150402)
- although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Cdh23ahl relatedNeurobiology Research
Vestibular and Hearing Defects
Age related hearing loss
Sensorineural Research
Vestibular and Hearing Defects
Age related hearing loss
Hrhr relatedNeurobiology Research
Vestibular and Hearing Defects
Age related hearing loss
Sensorineural Research
Vestibular and Hearing Defects
Age related hearing loss
Cancer Research
Increased Tumor Incidence
Leukemia: lymphocytic
Lymphomas: thymic
Skin Cancers: Induced
Toxicology
Cardiovascular Research
Diet-Induced Atherosclerosis
Relatively Resistant
Dermatology Research
Skin and Hair Texture Defects
Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects
Research Tools
Toxicology Research
drug/compound testing
| 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; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; 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] | ||
| Allele Symbol | Hrhr | ||
| Allele Name | hairless | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | hr; | ||
| Gene Symbol and Name | Hr, hairless | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ALUNC; AU; FLJ98880; HSA277165; MUHH; MUHH1; N; ba; baldy; bldy; rh; rh-bmh; rhino-bald Mill Hill; | ||
| Molecular Note | The hr allele is the result of a retroviral integration. Insertion of murine leukemia proviral sequences into intron 6 results in aberrant splicing of the gene. [MGI Ref ID J:19624] [MGI Ref ID J:92053] [MGI Ref ID J:9252] | ||
| Allele Symbol | mt-Trm2 | ||
| Allele Name | mutation 2 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | 9A; | ||
| Strain of Origin | various | ||
| Gene Symbol and Name | mt-Tr, mitochondrially encoded tRNA arginine | ||
| Chromosome | MT | ||
| Gene Common Name(s) | TrnR tRNA; tRNA; tRNA-Arg; | ||
| General Note | This polymorphism is present in ALR/Lt, NOD/ShiLtDvs, and SKH2/J. A variant with 10 adenines is found in A/J, ALS/Lt, NOD/ShiLtJ and NZB/B1NJ. | ||
| Molecular Note | The adenine repeat in the D stem is polymorphic with 9 adenines in this allele. [MGI Ref ID J:67312] [MGI Ref ID J:97969] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
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Cdh23ahl relatedHrhr 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]
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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; 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]
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Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 Cryopreserved Embryos $1600.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 Cryopreserved Embryos $2080.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Important Note | |
| This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by three months of age (Johnson et al. 2000). | |
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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| phone: | 207-288-6470 |
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