Strain Name:

B6.129S4-Htttm1Mem/J

Stock Number:

002688

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Availability:

Cryopreserved - Ready for recovery

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 B6.129S4-Hdtm1Mem/J    (Changed: 13-DEC-07 )
B6.129S4-Hdhtm1Mem/J    (Changed: 19-SEP-07 )
Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6
Donor Strain 129S4 via J1 ES cell line
GenerationB6N10
Generation Definitions
 
Donating InvestigatorDr. Marcy MacDonald,   Massachusetts General Hospital

Description
Mice homozygous for the Htttm1Mem targeted mutation die very early in embryogenesis (~day 8).

Control Information

  Control
   Wild-type female from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

View Huntington's Disease Models     (28 strains)

View Strains carrying other alleles of Htt     (13 strains)

Additional Web Information

Visit the Huntington's Diease Resource site for helpful information on Huntington's Disease and research resources.

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.
Huntington Disease; HD
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Htttm1Mem/Htt+

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
  • normal phenotype
  • no abnormal phenotype detected
    • animals are normal is size and appearance, with no obvious behavioral or morphological abnormalities   (MGI Ref ID J:27183)

Htttm1Mem/Htttm1Mem

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
  • mortality/aging
  • complete embryonic lethality between somite formation and embryo turning
    • by E8.5, all homozygous embryos are being resorbed, while only resorption sites are found at E9.5   (MGI Ref ID J:27183)
  • embryogenesis phenotype
  • abnormal developmental patterning   (MGI Ref ID J:27183)
    • abnormal ectoderm development
      • embryonic ectoderm is symmetrical and featureless, without evidence of head folds   (MGI Ref ID J:27183)
      • ectoderm is thicker than normal, and is disorganized rather than columnar especially distally   (MGI Ref ID J:27183)
      • increased ectoderm apoptosis
        • ~10% of cells are pyknotic compared to <1% in normal embryos   (MGI Ref ID J:27183)
    • abnormal mesoderm development
      • mesoderm cells line yolk sac, amnion, and chorion, but do not extend to distal pole   (MGI Ref ID J:27183)
      • cells are abnormally rounded and densely, not loosely, packed   (MGI Ref ID J:27183)
    • absent primitive node
      • at E7.5, primitive streak at one end of embryos forms, but no node structure is evident   (MGI Ref ID J:27183)
  • abnormal embryonic tissue morphology
    • embryonic region appears shrunken at E7.5   (MGI Ref ID J:27183)
    • abnormal ectoderm development
      • embryonic ectoderm is symmetrical and featureless, without evidence of head folds   (MGI Ref ID J:27183)
      • ectoderm is thicker than normal, and is disorganized rather than columnar especially distally   (MGI Ref ID J:27183)
      • increased ectoderm apoptosis
        • ~10% of cells are pyknotic compared to <1% in normal embryos   (MGI Ref ID J:27183)
    • abnormal mesoderm development
      • mesoderm cells line yolk sac, amnion, and chorion, but do not extend to distal pole   (MGI Ref ID J:27183)
      • cells are abnormally rounded and densely, not loosely, packed   (MGI Ref ID J:27183)
  • abnormal embryonic-extraembryonic boundary morphology
    • at E7.5, there is prominent constriction between the extraembryonic and embryonic regions of homozygotes   (MGI Ref ID J:27183)
  • abnormal extraembryonic tissue morphology
    • at E7.5, extraembryonic region is reduced in size   (MGI Ref ID J:27183)
    • abnormal extraembryonic endoderm formation
      • columnar cells of endoderm are not organized into tight sheath as in normal embryos, but form a folded layer extending around shrunken embryonic region   (MGI Ref ID J:27183)
  • decreased embryo size
    • at E7.5, homozygous embryos are ~2/3 of normal size and misshapen; at E7.0, some homozygous embryos are observed to be smaller and thinner than other embryos in the litter   (MGI Ref ID J:27183)
  • growth/size phenotype
  • decreased embryo size
    • at E7.5, homozygous embryos are ~2/3 of normal size and misshapen; at E7.0, some homozygous embryos are observed to be smaller and thinner than other embryos in the litter   (MGI Ref ID J:27183)
  • cellular phenotype
  • increased ectoderm apoptosis
    • ~10% of cells are pyknotic compared to <1% in normal embryos   (MGI Ref ID J:27183)
View Research Applications

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

Htttm1Mem related

Mouse/Human Gene Homologs
Huntington's disease (chorea)

Neurobiology Research
Cortical Defects
Huntington's disease
Neurodegeneration

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Htttm1Mem
Allele Name targeted mutation 1, Marcy E MacDonald
Allele Type Targeted (knock-out)
Common Name(s) Hdh-; Hdhex4/5; Hdhnull; R1Hdh4/5-1d1;
Mutation Made ByDr. Marcy MacDonald,   Massachusetts General Hospital
Strain of Origin(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line NameR1
ES Cell Line Strain(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name Htt, huntingtin
Chromosome 5
Gene Common Name(s) AI256365; C430023I11Rik; HD; Hd; Hdh; Huntington disease (human); Huntington disease gene homolog; IT15; RIKEN cDNA C430023I11 gene; expressed sequence AI256365;
Molecular Note A neomycin resistance cassette replaced exons 4 and 5 of the gene. [MGI Ref ID J:27183]

Genotyping

Genotyping Information

Genotyping Protocols

Htttm1Men, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Duyao MP; Auerbach AB; Ryan A; Persichetti F; Barnes GT; McNeil SM; Ge P; Vonsattel JP; Gusella JF; Joyner AL; MacDonald ME. 1995. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269(5222):407-10. [PubMed: 7618107]  [MGI Ref ID J:27183]

Additional References

Reiner A; Del Mar N; Meade CA; Yang H; Dragatsis I; Zeitlin S; Goldowitz D. 2001. Neurons lacking huntingtin differentially colonize brain and survive in chimeric mice. J Neurosci 21(19):7608-19. [PubMed: 11567051]  [MGI Ref ID J:71624]

Htttm1Mem related

Auerbach W; Hurlbert MS; Hilditch-Maguire P; Wadghiri YZ; Wheeler VC; Cohen SI; Joyner AL; MacDonald ME; Turnbull DH. 2001. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet 10(22):2515-23. [PubMed: 11709539]  [MGI Ref ID J:72915]

Hilditch-Maguire P; Trettel F; Passani LA; Auerbach A; Persichetti F; MacDonald ME. 2000. Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet 9(19):2789-97. [PubMed: 11092755]  [MGI Ref ID J:106641]

Jacobsen JC; Gregory GC; Woda JM; Thompson MN; Coser KR; Murthy V; Kohane IS; Gusella JF; Seong IS; Macdonald ME; Shioda T; Lee JM. 2011. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet 20(14):2846-60. [PubMed: 21536587]  [MGI Ref ID J:173410]

Lo Sardo V; Zuccato C; Gaudenzi G; Vitali B; Ramos C; Tartari M; Myre MA; Walker JA; Pistocchi A; Conti L; Valenza M; Drung B; Schmidt B; Gusella J; Zeitlin S; Cotelli F; Cattaneo E. 2012. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nat Neurosci 15(5):713-21. [PubMed: 22466506]  [MGI Ref ID J:191371]

MacDonald ME; Duyao M; Calzonetti T; Auerbach A; Ryan A; Barnes G ; White JK ; Auerbach W ; Vonsattel JP ; Gusella JF ; Joyner AL. 1996. Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harb Symp Quant Biol 61:627-38. [PubMed: 9246489]  [MGI Ref ID J:41317]

Meade CA; Deng YP; Fusco FR; Del Mar N; Hersch S; Goldowitz D; Reiner A. 2002. Cellular localization and development of neuronal intranuclear inclusions in striatal and cortical neurons in R6/2 transgenic mice. J Comp Neurol 449(3):241-69. [PubMed: 12115678]  [MGI Ref ID J:77468]

Reiner A; Del Mar N; Meade CA; Yang H; Dragatsis I; Zeitlin S; Goldowitz D. 2001. Neurons lacking huntingtin differentially colonize brain and survive in chimeric mice. J Neurosci 21(19):7608-19. [PubMed: 11567051]  [MGI Ref ID J:71624]

Seong IS; Woda JM; Song JJ; Lloret A; Abeyrathne PD; Woo CJ; Gregory G; Lee JM; Wheeler VC; Walz T; Kingston RE; Gusella JF; Conlon RA; Macdonald ME. 2009. Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet :. [PubMed: 19933700]  [MGI Ref ID J:155886]

White JK; Auerbach W; Duyao MP; Vonsattel JP; Gusella JF; Joyner AL ; MacDonald ME. 1997. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 17(4):404-10. [PubMed: 9398841]  [MGI Ref ID J:44391]

Woda JM; Calzonetti T; Hilditch-Maguire P; Duyao MP; Conlon RA; MacDonald ME. 2005. Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol 5:17. [PubMed: 16109169]  [MGI Ref ID J:103454]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Diet Information LabDiet® 5K52/5K67

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* $3000.00
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 11 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* $3900.00
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 11 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.

General Supply Notes

Control Information

  Control
   Wild-type female from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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.
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