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. Species laboratory mouse Background Strain C57BL/6 Donor Strain 129S4 via J1 ES cell line Generation B6N10   Donating Investigator Marcy MacDonald,   Massachusetts General Hospital

Description
Mice homozygous for the Htt^tm1Mem 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

Strains carrying other alleles of Htt

003454	B6.129-Htttm3Mem/J
003597	B6.129-Htttm4Mem/J
003598	B6.129-Htttm5Mem/J
004595	B6.129P2-Htttm2Detl/J
003453	STOCK Htttm2Mem/J
003455	STOCK Htttm4Mem/J
003456	STOCK Htttm5Mem/J

View Strains carrying other alleles of Htt     (7 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

NOT	Huntington Disease; HD - No similarity to the expected human disease phenotype was found.4

4 One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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.

Htt^tm1Mem/Htt⁺

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

• normal phenotype
• no abnormal phenotype detected (MGI Ref ID J:27183)
  • animals are normal is size and appearance, with no obvious behavioral or morphological abnormalities

Htt^tm1Mem/Htt^tm1Mem

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

• lethality-prenatal/perinatal
• embryonic lethality before turning of embryo (MGI Ref ID J:27183)
  • by E8.5, all homozygous embryos are being resorbed, while only resorption sites are found at E9.5
• embryogenesis phenotype
• abnormal developmental patterning (MGI Ref ID J:27183)
• abnormal Henson's node morphology (MGI Ref ID J:27183)
  • at E7.5, primitive streak at one end of embryos forms, but no node structure is evident
• abnormal ectoderm development (MGI Ref ID J:27183)
  • embryonic ectoderm is symmetrical and featureless, without evidence of head folds
  • ectoderm is thicker than normal, and is disorganized rather than columnar especially distally
• increased ectoderm apoptosis (MGI Ref ID J:27183)
  • ~10% of cells are pyknotic compared to <1% in normal embryos
• abnormal mesoderm development (MGI Ref ID J:27183)
  • mesoderm cells line yolk sac, amnion, and chorion, but do not extend to distal pole
  • cells are abnormally rounded and densely, not loosely, packed
• abnormal embryonic tissue morphology (MGI Ref ID J:27183)
  • embryonic region appears shrunken at E7.5
• abnormal embryonic-extraembryonic boundary morphology (MGI Ref ID J:27183)
  • at E7.5, there is prominent constriction between the extraembryonic and embryonic regions of homozygotes
• abnormal extraembryonic tissue morphology (MGI Ref ID J:27183)
  • at E7.5, extraembryonic region is reduced in size
• abnormal extraembryonic endoderm formation (MGI Ref ID J:27183)
  • columnar cells of endoderm are not organized into tight sheath as in normal embryos, but form a folded layer extending around shrunken embryonic region
• reduced embryo size (MGI Ref ID J:27183)
  • 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
• growth/size phenotype
• reduced embryo size (MGI Ref ID J:27183)
  • 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

View Research Applications

Research Applications

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

Htt^tm1Mem related

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

Neurobiology Research
Cortical Defects
Huntington's disease
Neurodegeneration

Genes & Alleles

Gene & Allele Information

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 By		Marcy MacDonald,   Massachusetts General Hospital
Strain of Origin		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line Name		R1
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

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Htt^tm1Mem 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]

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]

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

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the 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 for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type female from the colony
	000664 C57BL/6J
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.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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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Ordering and Purchasing Information

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Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.