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Former Names leaden (Changed: 15-DEC-04 ) Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Mating System Sibling x Sibling (Female x Male) 01-MAR-06 Breeding Considerations This strain is a challenging breeder. Species laboratory mouse H2 Haplotype bc (see, Shen FW 1982) Generation F250 (17-SEP-12)
Generation Definitions
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leaden (grey)
Related Genotype: a/a Tyrp1b/Tyrp1b Mlphln/MlphlnImportant Note
This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset prior to three months of age.Description
C57L/J mice are used widely in research as a general purpose strain. Mice have a high incidence of Hodgkin's-like reticulum cell neoplasm at 18 months of age and pituitary tumors in old multiparous females. C57L/J mice are highly susceptible to experimental allergic encephalomyelitis (EAE) and highly responsive to phytohemagglutinin. In addition, C57L/J mice are highly susceptible to developing atherosclerotic aortic lesions (4500 to 8000 um2 atherosclerotic aortic lesions/aortic cross-section) following 14 weeks on an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat) (Paigen et al. 1990). On a lithogenic diet, C57L/J mice develop gallstones as a result of abnormal regulation of cholesterol synthesis (Xua et al. 2004). C57L/J mice carry no detectable endogenous ecotropic MuLV DNA sequences.Development
C57L/J mice were inbred following a mutation in a now extinct substrain of C57BR at F22. Inbreeding was carried out by J Murray at The Jackson Laboratory beginning in 1933. They were transferred to the production facility in 1947 at F45. The current generation of inbreeding is F203+.
Strains carrying Ahrb-1 allele
000136 B6.C-H34c/(HW22)ByJ 000663 C57BL/6By 001139 C57BL/6ByJ 000664 C57BL/6J 000662 C57BLKS/J 000667 C57BR/cdJ 000669 C58/J 000351 CXB1/ByJ 000356 CXB6/ByJ 002937 D2.B6-Ahrb-1/J 000677 MA/MyJ View Strains carrying Ahrb-1 (11 strains)
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 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 003392 STOCK Crb1rd8/J View Strains carrying Cdh23ahl (41 strains)
Strains carrying Mlphln allele
000112 B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J 000643 DW/J Mlphln Pou1f1dw/J 002902 STOCK Pax3Sp Mlphln/J 000275 V/LeJ View Strains carrying Mlphln (4 strains)
Strains carrying Rmcfs allele
000646 A/J 000648 AKR/J 000779 AKXD14/TyJ 000780 AKXD23/TyJ 000764 AKXD27/TyJ 000777 AKXD6/TyJ 000667 C57BR/cdJ 000669 C58/J 000682 RF/J 000644 SEA/GnJ 000686 SJL/J 000688 ST/bJ View Strains carrying Rmcfs (12 strains)
Strains carrying other alleles of Ahr
000690 129P3/J 000645 A/HeJ 000646 A/J 000648 AKR/J 002920 B6(D2N).Spretus-Ahrb-3/J 006203 B6.129(FVB)-Ahrtm3.1Bra/J 002831 B6.129-Ahrtm1Bra/J 000130 B6.C-H17c/(HW14)ByJ 000370 B6.C-H38c/(HW119)ByJ 008599 B6.Cg-Cyp1a2/Cyp1a1tm2Dwn Ahrd Tg(CYP1A1,CYP1A2)1Dwn/DwnJ 002921 B6.D2N-Ahrd/J 002727 B6;129-Ahrtm1Bra/J 001026 BALB/cByJ 000652 BDP/J 000653 BUB/BnJ 000659 C3H/HeJ 000926 CAROLI/EiJ 000928 CAST/EiJ 000656 CBA/J 000657 CE/J 000352 CXB2/ByJ 000353 CXB3/ByJ 000354 CXB4/ByJ 000355 CXB5/ByJ 000357 CXB7/ByJ 000671 DBA/2J 000673 HRS/J 000674 I/LnJ 000675 LG/J 000676 LP/J 000550 MOLF/EiJ 000684 NZB/BlNJ 000679 P/J 000930 PERA/EiJ 000726 RBF/DnJ 000682 RF/J 000644 SEA/GnJ 000280 SF/CamEiJ 000686 SJL/J 001146 SPRET/EiJ 000688 ST/bJ 000689 SWR/J 000693 WC/ReJ KitlSl/J 000933 YBR/EiJ View Strains carrying other alleles of Ahr (44 strains)
Strains carrying other alleles of Cdh23
002552 B6(V)-Cdh23v-2J/J 002756 B6.CAST-Cdh23Ahl+/Kjn 010615 B6.CBACa-Cdh23CBA/CaJ/Kjn 002432 B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/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 (8 strains)
Strains carrying other alleles of Mlph
000681 DW.C3-Mlph+ Pou1f1+/J 001640 STOCK Mlphln-l1Rk3/J View Strains carrying other alleles of Mlph (2 strains)
Strains carrying other alleles of Obq3
000648 AKR/J View Strains carrying other alleles of Obq3 (1 strain)
Strains carrying other alleles of Obq4
000648 AKR/J View Strains carrying other alleles of Obq4 (1 strain)
Strains carrying other alleles of Rmcf
000690 129P3/J 000765 AKXD13/TyJ 000954 AKXD15/TyJ 001093 AKXD18/TyJ 000947 AKXD22/TyJ 000763 AKXD9/TyJ 000654 CBA/CaJ 000670 DBA/1J View Strains carrying other alleles of Rmcf (8 strains)
JAX® NOTES, April 1988; 433. H-2 Haplotypes of Mice from Jackson Laboratory Production Colonies.
View Phenotypic Data
Phenotypic Data
Mouse Phenome Database
Festing Inbred Strain Characteristics: C57L
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Recessive 12; DFNB12 (CDH23)
Griscelli Syndrome, Type 3; GS3 (MLPH)
Usher Syndrome, Type ID; USH1D (CDH23)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
Rmcfs/Rmcfs
C57L/J
- immune system phenotype
- increased susceptibility to viral infection
- susceptible to infection with N- and NB-tropic mink cell focus-forming (MCF) viruses (MGI Ref ID J:7108)
a/a Mlphln/Mlphln Tyrp1b/Tyrp1b
C57L/J
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5095)
- diluted coat color
- due to clumping of pigment (MGI Ref ID J:5095)
- abnormal melanocyte morphology
- results in clumping rather than even distribution of pigment during hair development (MGI Ref ID J:5095)
- integument phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5095)
- diluted coat color
- due to clumping of pigment (MGI Ref ID J:5095)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Ahrb-1 relatedCancer Research
Increased Tumor Incidence
Leukemia
Other Tissues/Organs
Other Tissues/Organs: pituitary, reticulum cell neoplasm, type B
Cardiovascular Research
Diet-Induced Atherosclerosis
Susceptible
Dermatology Research
Color and White Spotting Defects
Immunology, Inflammation and Autoimmunity Research
Autoimmunity
experimental allergic encephalomyelitis (EAE)
Neurobiology Research
Hearing Defects
Age related hearing loss
Research Tools
General Purpose
Sensorineural Research
Hearing Defects
Age related hearing loss
Cdh23ahl relatedResearch Tools
Toxicology Research
Mlphln relatedNeurobiology Research
Hearing Defects
Age related hearing loss
Sensorineural Research
Hearing Defects
Age related hearing loss
Dermatology Research
Color and White Spotting Defects
| Allele Symbol | Ahrb-1 | ||
|---|---|---|---|
| Allele Name | b-1 variant | ||
| Allele Type | Not Applicable | ||
| Common Name(s) | Ah; Ahb-1; Ahb; Ahhi; Ahrb; In; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | Ahr, aryl-hydrocarbon receptor | ||
| Chromosome | 12 | ||
| Gene Common Name(s) | Ah; Ahh; Ahre; In; aromatic hydrocarbon responsiveness; aryl hydrocarbon hydroxylase; bHLHe76; dioxin receptor; inflammatory reactivity; | ||
| General Note |
C57BL/6 carries the responsive Ahrb allele; DBA/2 carries nonresponsive Ahrd. Heterozygotes (Ahrb/Ahrd) are responsive (J:5282). Later work identified a second (J:8895) and later a third (J:22144) allele conferring response. Thus the allele in C57, C58, and MA/My strains is now Ahrb-1; Ahrb-2 is carried by BALB/cBy, A, and C3H; and Ahrb-3 by Mus spretus, M. caroli, and MOLF/Ei. The nonresponsive strains AKR, DBA/2, and 129 carry Ahrd (J:22144). Nucleotide and amino acid sequence differences between Ahrb-1 and Ahrd have been determined (J:17460). Strain of origin - this allele was found in C57BL/6, C58/J, C57BR, MA/My strains | ||
| Molecular Note | This allele encodes a high affinity, relatively heat stabile, 95 kDa receptor. PCR sequencing of cDNA revealed ten nucleotide differences between the coding sequences of the DBA/2J and C57BL/6J receptors. Five of the ten differences would cause amino acid changes. One of these, a C to T transition in exon 11 would change the arginine codon in the DBA/2J allele to an opal termination codon in the C57BL/6J allele. This change would prevent the 43 amino acid extension of mRNA translation predicted for the DBA/2J allele and account for the smaller size of the peptide produced by this allele (95 kDa vs 104 kDa for the DBA/2J allele). A second C to T transition changes a proline codon in the DBA/2J allele to leucine codon in the C57BL/6J allele, and would likely change secondary structure of the peptide and thus ligand affinity. [MGI Ref ID J:15153] [MGI Ref ID J:17460] [MGI Ref ID J:477] | ||
| 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] | ||
| Allele Symbol | Mlphln | ||
| Allele Name | leaden | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ln; | ||
| Strain of Origin | C57BR | ||
| Gene Symbol and Name | Mlph, melanophilin | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; SLAC2-A; Slac-2a; expressed sequence AW228792; l(1)-3Rk; l1Rk3; leaden; lethal, Chr 1, Roderick 3; ln; | ||
| Molecular Note | This allele has a C to T transition at mRNA nucleotide position 266. This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. [MGI Ref ID J:71302] | ||
| Allele Symbol | Obq3C57L/J | ||
| Allele Name | C57L/J | ||
| Allele Type | QTL | ||
| Strain of Origin | C57L/J | ||
| Gene Symbol and Name | Obq3, obesity QTL 3 | ||
| Chromosome | 2 | ||
| General Note | Obq3 exhibits additive inheritance. | ||
| Allele Symbol | Obq4C57L/J | ||
| Allele Name | C57L/J | ||
| Allele Type | QTL | ||
| Strain of Origin | C57L/J | ||
| Gene Symbol and Name | Obq4, obesity QTL 4 | ||
| Chromosome | 17 | ||
| General Note | Obq4 may also be consistent with an additive mode of inheritance. | ||
| Molecular Note | This allele confers increased adiposity in male animals compared to AKR/J, and accounts for 11.7% of the phenotypic variance in male inguinal fat pad weight (percentage). [MGI Ref ID J:39947] | ||
| Allele Symbol | Rmcfs | ||
| Allele Name | MCF sensitive | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | multiple strains | ||
| Gene Symbol and Name | Rmcf, resistance to MCF virus | ||
| Chromosome | 5 | ||
| General Note |
This locus controls resistance and susceptibility of cells in tissue culture to infection by mink cell focus-forming murine leukemia viruses. The allele Rmcfr determines resistance and occurs in strains DBA/1, DBA/2, and CBA/Ca; the allele Rmcfs determines susceptibility and occurs in strains AKR/J, C57BL/6, BALB/c, CBA/J, NFS, NZB, 129/J, and many others. Heterozygotes are as resistant as the resistant parent or nearly so. Rmcf is different from and independent of Fv1,a locus that controls susceptibility to infection by ecotropic viruses. Rmcf is located on Chr 5 close to Hm near the centromeric end (J:7108). Rmcfr protects (AKR x CBA/Ca)F1 and (AKR x DBA/2)F1 hybrids from development of spontaneous thymic lymphomas and reduces the incidence of MCF-induced thymic lymphomas (J:7175). It also reduces susceptibility of cells of Sxvs/Sxvr mice to exogenous xenotropic viruses (J:7951). In addition, in strains susceptible to Friend virus-induced erythroleukemia, a condition thought to be due to the replication of MCF virus, Rmcfr increases resistance to the virus-induced erythroleukemia. It may cause resistance by coding for or regulating the production of an MCF-related envelope glycoprotein that blocks the receptor for MCF viruses (J:8074). This conclusion is reinforced by the findings of Buller et al. (J:8497), who showed that the Rmcfr allele contains an endogenous MCF gp70 env gene and that theRmcfs allele, at least in some strains (C57BL/6, CBA/J, and A/WySn), contains a xenotropic gp70 env gene. Presumably the MCF gp70 inhibits exogenous MCF infection in vitro by a mechanism of viral interference. | ||
| Molecular Note | This locus controls resistance of cells to infection by mink cell focus-forming murine leukemia viruses. The recessive s (susceptible) allele is found in AKR/J, C57BL/6, BALB/c, CBA/J, NFS, NZB and 129/J. | ||
Inbred mouse strains are maintained through sibling (sister x brother) matings; no genotyping required.
Genotyping resources and troubleshooting
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Nishina PM; Wang J; Toyofuku W; Kuypers FA; Ishida BY; Paigen B. 1993. Atherosclerosis and plasma and liver lipids in nine inbred strains of mice. Lipids 28(7):599-605. [PubMed: 8355588] [MGI Ref ID J:13267]
Paigen B. 1995. Genetics of responsiveness to high-fat and high- cholesterol diets in the mouse. Am J Clin Nutr 62(2):458S-462S. [PubMed: 7625360] [MGI Ref ID J:28248]
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Shen FW; Chorney MJ; Boyse EA. 1982. Further polymorphism of the Tla locus defined by monoclonal TL antibodies. Immunogenetics 15(6):573-8. [PubMed: 7106865] [MGI Ref ID J:6828]
Dunn TB; Deringer MK. 1968. Reticulum cell neoplasm, type B, or the Hodgkin's-like lesion of the mouse. J Natl Cancer Inst 40(4):771-821. [PubMed: 4869134] [MGI Ref ID J:2417]
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Jenkins NA; Copeland NG; Taylor BA; Lee BK. 1982. Organization, distribution, and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J Virol 43(1):26-36. [PubMed: 6287001] [MGI Ref ID J:6844]
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Ahrb-1 relatedCdh23ahl relatedBenedict WF; Considine N; Nebert DW. 1973. Genetic differences in aryl hydrocarbon hydroxylase induction and benzo(a)pyrene-produced tumorigenesis in the mouse. Mol Pharmacol 9(2):266-77. [PubMed: 4123113] [MGI Ref ID J:84312]
Boobis AR; Nebert DW. 1976. Genetic differences in the metabolism of carcinogens and in the binding of benzo (a) pyrene metabolites to DNA. Adv Enzyme Regul 15:339-62. [PubMed: 1030186] [MGI Ref ID J:12156]
Bradfield CA; Glover E; Poland A. 1991. Purification and N-terminal amino acid sequence of the Ah receptor from the C57BL/6J mouse. Mol Pharmacol 39(1):13-9. [PubMed: 1846217] [MGI Ref ID J:84440]
Burbach KM; Poland A; Bradfield CA. 1992. Cloning of the Ah-receptor cDNA reveals a distinctive ligand-activated transcription factor. Proc Natl Acad Sci U S A 89(17):8185-9. [PubMed: 1325649] [MGI Ref ID J:2256]
Castro DJ; Lohr CV; Fischer KA; Pereira CB; Williams DE. 2008. Lymphoma and lung cancer in offspring born to pregnant mice dosed with dibenzo[a,l]pyrene: the importance of in utero vs. lactational exposure. Toxicol Appl Pharmacol 233(3):454-8. [PubMed: 18848954] [MGI Ref ID J:143604]
Chang C; Smith DR; Prasad VS; Sidman CL; Nebert DW; Puga A. 1993. Ten nucleotide differences, five of which cause amino acid changes, are associated with the Ah receptor locus polymorphism of C57BL/6 and DBA/2 mice. Pharmacogenetics 3(6):312-21. [PubMed: 8148872] [MGI Ref ID J:17460]
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Ema M; Sogawa K; Watanabe N; Chujoh Y; Matsushita N; Gotoh O; Funae Y; Fujii-Kuriyama Y. 1992. cDNA cloning and structure of mouse putative Ah receptor. Biochem Biophys Res Commun 184(1):246-53. [PubMed: 1314586] [MGI Ref ID J:477]
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Kerley-Hamilton JS; Trask HW; Ridley CJ; Dufour E; Lesseur C; Ringelberg CS; Moodie KL; Shipman SL; Korc M; Gui J; Shworak NW; Tomlinson CR. 2012. Inherent and benzo[a]pyrene-induced differential aryl hydrocarbon receptor signaling greatly affects life span, atherosclerosis, cardiac gene expression, and body and heart growth in mice. Toxicol Sci 126(2):391-404. [PubMed: 22228805] [MGI Ref ID J:183715]
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Lew BJ; Manickam R; Lawrence BP. 2011. Activation of the aryl hydrocarbon receptor during pregnancy in the mouse alters mammary development through direct effects on stromal and epithelial tissues. Biol Reprod 84(6):1094-102. [PubMed: 21270426] [MGI Ref ID J:173706]
Moriguchi T; Motohashi H; Hosoya T; Nakajima O; Takahashi S; Ohsako S; Aoki Y; Nishimura N; Tohyama C; Fujii-Kuriyama Y; Yamamoto M. 2003. Distinct response to dioxin in an arylhydrocarbon receptor (AHR)-humanized mouse. Proc Natl Acad Sci U S A 100(10):5652-7. [PubMed: 12730383] [MGI Ref ID J:132380]
Nebert DW; Atlas SA; Guenthner TM; Kouri RE. 1978. The Ah locus: genetic regulation of the enzymes which metabolize polycyclic hydrocarbons and the risk of cancer. In: Polycyclic Hydrocarbons and Cancer: Chemistry, Molecular Biology and Environment. Academic Press, New York. [MGI Ref ID J:30693]
Nebert DW; Considine N; Owens IS. 1973. Genetic expression of aryl hydrocarbon hydroxylase induction. VI. Control of other aromatic hydrocarbon-inducible mono-oxygenase activities at or near the same genetic locus. Arch Biochem Biophys 157(1):148-59. [PubMed: 4716952] [MGI Ref ID J:84313]
Nebert DW; Gelboin HV. 1969. The in vivo and in vitro induction of aryl hydrocarbon hydroxylase in mammalian cells of different species, tissues, strains, and developmental and hormonal states. Arch Biochem Biophys 134(1):76-89. [PubMed: 4981257] [MGI Ref ID J:84248]
Nebert DW; Gielen JE. 1972. Genetic regulation of aryl hydrocarbon hydroxylase induction in the mouse. Fed Proc 31(4):1315-25. [PubMed: 4114109] [MGI Ref ID J:5282]
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Animal Health Reports
Room Number MP13
Colony Maintenance
Mating System Sibling x Sibling (Female x Male) 01-MAR-06 Breeding Considerations This strain is a challenging breeder. Diet Information LabDiet® 5K52/5K67
| Pricing for USA, Canada and Mexico shipping destinations |
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Level 4. Up to 10 mice. Larger quantities or custom orders arranged upon request. Expected delivery up to one to three months.
| Pricing for International shipping destinations |
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Level 4. Up to 10 mice. Larger quantities or custom orders arranged upon request. Expected delivery up to one to three months.
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Level 4. Up to 10 mice. Larger quantities or custom orders arranged upon request. Expected delivery up to one to three months.
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