Strain Name: |
SKH2/J |
|---|---|
Stock Number: |
002335 |
Availability: | Repository-Cryopreserved |
Price and Supply Information | |
General Terms and Conditions |
| Genes & Alleles | Cdh23; Cdh23ahl; Hr; Hrhr; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation 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 3 months of age (Johnson et al., 2000).Strain 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.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Cdh23ahl | ||
|---|---|---|---|
| Allele Name | age related hearing loss 1 | ||
| Common Name(s) | Cdh23753A; mdfw; | ||
| Strain of Origin | C57BL/6J | ||
| 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; 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/LyJ, 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 | ||
| Common Name(s) | hr; | ||
| Gene Symbol and Name | Hr, hairless | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ALUNC; AU; HSA277165; N; ba; baldy; bldy; rh; rh-bmh; rhino-bald Mill Hill; | ||
| General Note | Homozygous Hrhr/Hrhr mice develop a normal coat up to the age of about 10 days, but then lose all hair. The complete hair is lost from the follicle, not merely broken off. Waves of hair growth producing a few thin fuzzy hairs occur at intervals of about a month for some time thereafter, but the animals eventually appear continuously hairless (J:2409).The vibrissae are repeatedly regrown and shed, and become more abnormal with age. Toenails are excessively long and curved. There ishyperkeratosis of the stratified epithelium and upper part of the hair canals beginning at about 14 days. Hair club formation is abnormal, with the internal root sheath coalescing around the terminal part of the hair shaft so that the lower part of the external root sheath fails to follow the ascending hair club and becomes stranded in the dermis. Cysts develop from two sources, the hyperkeratotic upper part of the hair canals, and the sheaths of the abnormal follicles stranded in the dermis (J:14940, J:5239). Some cysts arise from isolated sebaceous glands. Regardless of their origin, all cysts undergo a sebaceous transformation and later a keratinization (J:14889).Hairless mice are generally fertile, but most females do not nurse their young well (J:2409).Homozygous hairless mice of the inbred HRS/J strain have a higher incidence of leukemia with earlier onset than their normal sibs, a 13-fold higher titer of ecotropic virus in tail extracts at 6 months of age (J:5726), a 100-fold higher titer of xenotropic virus in the thymus at 8 months of age (J:5908), and a lower cellular immune response to tumor viruses that may be responsible for the increased tumor susceptibility of the mice (J:6535). The incidence of leukemia in Hr homozygotes can be significantly reduced by passive immunization with virus-specific antiserum (J:6059). The lower cellular immune response of these mice is characteristic of spleen cells but not of lymph node cells and is due to a deficiency of T helper (Ly-1+) cells (J:6375, J:6087).The Hrhr mutation was caused by a retroviral integration, as shown by the complete concordance of the mutation and the provirus in several strains carrying Hr and the excision of the provirus in a haired revertant (J:9252). The gene mutated in hr has been identified and cloned. Its predicted protein product has 1182 amino acids, and includes a zinc finger domain. Expression sites are consonant with the sites of abnormalities in hairless mutants (J:19624). The Hrhr mutation disrupts the integrity of tissues in the hair follicle (J:47743). | ||
| Molecular Note | Mice homozygous for hr contain one or more MLV proviruses closely linked to this allele. Molecular analysis of an hr (haired) revertant showed the presence of only a single proviral, MX40, LTR establishing a causal relationship between the viral integration and the hr mutant allele. [MGI Ref ID J:92053] [MGI Ref ID J:9252] | ||
Control Information
| Allele | Control | |
|---|---|---|
| Hrhr | None Available | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for JAX® GEMM® Strains | ||
Related Strains
Strains carrying Cdh23ahl allele
001137 129P1/ReJ 000690 129P3/J 002065 129T2/SvEmsJ 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 004502 B6;AKR-Lxl2/J 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/J 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Nmf134/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 (41 strains)
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
008288 B6(Cg)-Cdh23v-11J/J 002756 B6.CAST-Cdh23Ahl+/Kjn 002432 B6J x B6.C-H2bm1/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
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
Additional Web Information
Genetic Quality Control Annual Report
JAX Notes, January 1989; 436. Phenotypic abnormalities in hr-locus mutants.
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)
Increased Tumor Incidence (Lymphomas: thymic)
Increased Tumor Incidence (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)
References
Additional ReferencesPrice and Supply Information
| Strain Name: | SKH2/J |
| Stock Number: | 002335 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:
- USA, Canada and Mexico
- International
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | |||||
|---|---|---|---|---|---|
| Cryorecovery Fee | $2470.00 | ||||
| Cryopreserved Embryos Fee | $2080.00 | ||||
Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
|---|---|
| Supply Notes |
Cryopreserved Embryos This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page. Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. View Control Pricing Information for JAX® Strains. |
General Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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