Strain Name:

C57BL/6J-Rab38cht/J

Stock Number:

000976

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names C57BL/6J-Rab38cht    (Changed: 15-DEC-04 )
C57BL/6J-cht/+    (Changed: 15-DEC-04 )
Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Description
On the C57BL/6J background Rab38cht/Rab38cht mice have a rich dark chocolate coat color instead of the normal black coat. This can be difficult to distinguish, but is made easier by the lightened color in the ear pinnae and tail. At birth the eyes of Rab38cht/Rab38cht mice are lighter in color than wild type C57BL/6J mice. The melanosomes in melanocytes cultured from newborn C57BL/6J mice are oval and intensely black while those of chocolate mice are circular and brown. The end-stage melanosomes of chocolate mice contain less TYRP1 than do wild type mice. Mutations in Tyrp1 result in increased brown rather than black pigment. Thus, Loftus et al. have hypothesized that the chocolate mutation results in decreased black pigmentation because RAB38 is important in the vesicular trafficking that moves TYRP1 from the trans-Golgi network to the end-stage melanosome. Many of the pigment diluting mutations with defective organelle trafficking also have a platelet storage pool deficiency. However, chocolate mice do not have extended bleeding times. (Potter and Rinchik, 1993; MacPike and Mobraaten, 1984; Davisson and Bunker, 1986.)

The RAB family of proteins is comprised of small GTP-binding proteins that transition between the cytoplasm and organelle membranes and are believed to regulate vesicle transport. In mouse the Rab38 gene encodes a transcript of 1.6 kb. The cDNA has a 636 base pair open reading frame predicted to encode a 211 amino acid protein with the 5 GTP-binding domains standard for members of the Ras superfamily. The two-cysteine carboxy terminal motif important for the binding of lipid moieties differs from the consensus sequence found in other RAB proteins and is more like that found in RAS proteins. The Rab38 sequence is highly conserved among mammals. Mouse Rab38 transcript is detected in melanocytes, melanoma cell lines, and at varying levels in many tissues including adrenal gland, uterus, testes, kidney, prostate, placenta, and others. Using in situ hybridization and immunohistochemistry, Rab38 localizes in rat lung tissue to alveolar corner cells, primarily alveolar type II cells, and bronchial epithelial cells, primarily terminal bronchial cells. Confocal microscopy and subcellular fractionation of cultured rat alveolar type II cells show that RAB38 is absent from the nucleus but is present in the cytoplasm and co-localizes with an endoplasmic reticulum marker, but not with markers for golgi, trans golgi network, or endosomes. A GFP-RAB38 fusion protein was found to co-localize with end-stage melanosomes in primary mouse melanocyte cultures. (Jager et al., 2000; Osanai et al., 2001; Loftus et al., 2002.)

The chocolate allele of Rab38 has a G to T transversion at nucleotide146 in exon 1. This translates as a glycine to valine substitution at amino acid 19. Three dimensional modeling predicts that this residue directly contacts GTP in the nucleotide binding pocket. A PCR protocol to identify this allele has been developed. (Loftus et al., 2002.)

Development
Rab38cht is a recessive mutation that arose spontaneously at The Jackson Laboratory in 1984 on the C57BL/6J background then at F140. Embryos from C57BL/6J females bred to homozygous chocolate males were frozen in 1987.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Rab38cht/Rab38cht

        C57BL/6J-Rab38cht/J
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:13967)
    • dark brown coat color by weaning instead of non-agouti black of C57BL/6J strain   (MGI Ref ID J:75774)
    • a rich dark brown coat is observed instead of a normal black coat   (MGI Ref ID J:143433)
    • abnormal hair follicle melanogenesis
      • a visible decrease in melanin levels is observed in hair follicles of the skin   (MGI Ref ID J:143433)
  • abnormal eye pigmentation
    • lighter color pigmentation at birth compared to littermates   (MGI Ref ID J:75774)
    • abnormal iris pigmentation
      • iris pigment exhibits mild transilluminations increasing peripherally   (MGI Ref ID J:141035)
    • decreased eye pigmentation
      • a thinner pigment layer is observed in the retina and choroid   (MGI Ref ID J:143433)
  • abnormal melanosome morphology
    • melanocytes contain small, circular melanosomes with a brown hue that are distinct from the intensely black, oval melanosomes seen in control non-agout C57BL/6J mice   (MGI Ref ID J:75774)
  • abnormal skin pigmentation
    • lighter color pigmentation at birth compared to littermates   (MGI Ref ID J:75774)
    • a lighter skin pigmentation is observed in the ear and tail   (MGI Ref ID J:143433)
  • vision/eye phenotype
  • abnormal eye pigmentation
    • lighter color pigmentation at birth compared to littermates   (MGI Ref ID J:75774)
    • abnormal iris pigmentation
      • iris pigment exhibits mild transilluminations increasing peripherally   (MGI Ref ID J:141035)
    • decreased eye pigmentation
      • a thinner pigment layer is observed in the retina and choroid   (MGI Ref ID J:143433)
  • respiratory system phenotype
  • abnormal lung volume
    • significantly higher total lung volumes are observed at 12 and 24 weeks of age, as determined by water displacement   (MGI Ref ID J:143433)
    • lung volume at 25 cmH2O airway pressure is significantly higher than that in wild-type mice   (MGI Ref ID J:143433)
  • abnormal pulmonary acinus morphology
    • the mean linear intercept, destructive index, and volume proportion of alveolar ducts and sacs are significantly increased at 24 weeks of age, indicating alveolar structural abnormalities   (MGI Ref ID J:143433)
    • however, no severe emphysematous changes or apparent signs of inflammation are observed   (MGI Ref ID J:143433)
    • abnormal pulmonary alveolus wall morphology
      • the volume proportion of the alveolar wall is significantly reduced at 12 and 24 weeks of age   (MGI Ref ID J:143433)
    • abnormal type II pneumocyte morphology
      • at 18 weeks of age, alveolar type II cells are enlarged and contain lamellar bodies of increased size in larger numbers   (MGI Ref ID J:143433)
      • however, no differences in either alveolar type II cells or lamellar bodies are noted at E17   (MGI Ref ID J:143433)
      • enlarged alveolar lamellar bodies
        • at 18 weeks of age, the size of lamellar bodies is significantly increased   (MGI Ref ID J:143433)
        • adult lamellar bodies are engorged with surfactant   (MGI Ref ID J:143433)
      • increased alveolar lamellar body number
        • at 18 weeks of age, the number of lamellar bodies is significantly increased   (MGI Ref ID J:143433)
    • dilated pulmonary alveolar ducts
      • at 24 weeks of age   (MGI Ref ID J:143433)
  • abnormal surfactant secretion
    • surfactant protein B (SP-B) is increased in the lung homogenate but decreased in the BAL fluid   (MGI Ref ID J:143433)
    • phosphatidylcholine and total phospholipid levels are increased in the lamellar body fraction and the lung homogenates, but no differences are seen in the BAL fluid   (MGI Ref ID J:143433)
  • dilated respiratory conducting tubes
    • enlarged lower respiratory tract airspaces are observed at 12 and 24 weeks of age   (MGI Ref ID J:143433)
  • increased lung compliance
    • static lung compliance is significantly higher than that in wild-type mice   (MGI Ref ID J:143433)
    • however, specific lung compliance (i.e. static lung compliance divided by the lung volume at 25 cmH2O airway pressure) is not significantly altered   (MGI Ref ID J:143433)
    • airway opening pressure and the hysteresis ratio remain normal   (MGI Ref ID J:143433)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:13967)
    • dark brown coat color by weaning instead of non-agouti black of C57BL/6J strain   (MGI Ref ID J:75774)
    • a rich dark brown coat is observed instead of a normal black coat   (MGI Ref ID J:143433)
    • abnormal hair follicle melanogenesis
      • a visible decrease in melanin levels is observed in hair follicles of the skin   (MGI Ref ID J:143433)
  • abnormal skin pigmentation
    • lighter color pigmentation at birth compared to littermates   (MGI Ref ID J:75774)
    • a lighter skin pigmentation is observed in the ear and tail   (MGI Ref ID J:143433)
  • hematopoietic system phenotype
  • *normal* hematopoietic system phenotype
    • no defects in platelet function are detected no hematopoietic system abnormalities detected   (MGI Ref ID J:75774)
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype
    • normal bleeding times are observed at 12 weeks of age   (MGI Ref ID J:143433)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Rab38cht related

Cell Biology Research
Vesicular Trafficking

Dermatology Research
Color and White Spotting Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Rab38cht
Allele Name chocolate
Allele Type Spontaneous
Common Name(s) chocolate; cht;
Strain of OriginC57BL/6J
Gene Symbol and Name Rab38, RAB38, member RAS oncogene family
Chromosome 7
Gene Common Name(s) 2310011F14Rik; AU043391; NY-MEL-1; R; RIKEN cDNA 2310011F14 gene; Ruby; chocolate; cht; expressed sequence AU043391; rrGTPbp;
General Note This allele has been maintained on the C57BL/6J background at The Jackson Laboratory since 1984 when it was first identified.
Molecular Note A G to T transversion mutation at position 146 in exon 1 results in a glycine to valine substitution in codon 19 of the gene. This mutation lies within the highly conserved phosphate/Mg2+ domain. [MGI Ref ID J:75774]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Potter MD; Rinchik EM. 1993. Deletion mapping of the chocolate (cht) locus within the Fes-Hbb region of mouse chromosome 7. Mamm Genome 4(1):46-8. [PubMed: 8422502]  [MGI Ref ID J:3753]

Rab38cht related

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Brooks BP; Larson DM; Chan CC; Kjellstrom S; Smith RS; Crawford MA; Lamoreux L; Huizing M; Hess R; Jiao X; Hejtmancik JF; Maminishkis A; John SW; Bush R; Pavan WJ. 2007. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci 48(9):3905-13. [PubMed: 17724166]  [MGI Ref ID J:124886]

Davisson MT; Bunker HP. 1986. Linkage of chocolate (cht) to chr 7. Mouse News Lett 75:31.  [MGI Ref ID J:14100]

Loftus SK; Larson DM; Baxter LL; Antonellis A; Chen Y; Wu X; Jiang Y; Bittner M; Hammer JA 3rd; Pavan WJ. 2002. Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A 99(7):4471-6. [PubMed: 11917121]  [MGI Ref ID J:75774]

Lopes VS; Wasmeier C; Seabra MC; Futter CE. 2007. Melanosome maturation defect in Rab38-deficient retinal pigment epithelium results in instability of immature melanosomes during transient melanogenesis. Mol Biol Cell 18(10):3914-27. [PubMed: 17671165]  [MGI Ref ID J:128282]

MacPike A; Mobraaten LE. 1984. New coat color mutations, Dbr and cht Mouse News Lett 70:86.  [MGI Ref ID J:13967]

Meyer M; Ortiz O; Hrabe de Angelis M; Wurst W; Kuhn R. 2012. Modeling disease mutations by gene targeting in one-cell mouse embryos. Proc Natl Acad Sci U S A 109(24):9354-9. [PubMed: 22660928]  [MGI Ref ID J:185512]

Osanai K; Oikawa R; Higuchi J; Kobayashi M; Tsuchihara K; Iguchi M; Jongsu H; Toga H; Voelker DR. 2008. A mutation in Rab38 small GTPase causes abnormal lung surfactant homeostasis and aberrant alveolar structure in mice. Am J Pathol 173(5):1265-74. [PubMed: 18832574]  [MGI Ref ID J:143433]

Potter MD; Rinchik EM. 1993. Deletion mapping of the chocolate (cht) locus within the Fes-Hbb region of mouse chromosome 7. Mamm Genome 4(1):46-8. [PubMed: 8422502]  [MGI Ref ID J:3753]

Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L. 1998. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80. [PubMed: 9585243]  [MGI Ref ID J:88018]

Wasmeier C; Romao M; Plowright L; Bennett DC; Raposo G; Seabra MC. 2006. Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol 175(2):271-81. [PubMed: 17043139]  [MGI Ref ID J:114509]

Wefers B; Meyer M; Ortiz O; Hrabe de Angelis M; Hansen J; Wurst W; Kuhn R. 2013. Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides. Proc Natl Acad Sci U S A 110(10):3782-7. [PubMed: 23426636]  [MGI Ref ID J:205086]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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