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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 Htttm1Mem targeted mutation die very early in embryogenesis (~day 8).
| Control | ||
|---|---|---|
| Wild-type female from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
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)
Congenic Nomenclature
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.
Htttm1Mem/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
Htttm1Mem/Htttm1Mem
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:Htttm1Mem related
Mouse/Human Gene Homologs
Huntington's disease (chorea)
Neurobiology Research
Cortical Defects
Huntington's disease
Neurodegeneration
| 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] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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]
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 relatedAuerbach 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]
Colony Maintenance
Diet Information LabDiet® 5K52/5K67
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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 for further information. |
|---|---|
| Supply Notes |
|
| 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. | ||
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Fax: 207.288.6150
Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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