Strain Name:

B10.D2/nSn-ShhHx/J

Stock Number:

000214

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names B10.D2/nSn-Hx/J    (Changed: 12-JUL-07 )
Type Congenic; Mutant Strain;
Specieslaboratory mouse
GenerationF58p

Development
The Hx spontaneous mutation arose at The Jackson Laboratory in 1967 on the B10.D2/nSnJ background and was maintained by crossing heterozygous females to wild type littermates (Dickie, M.M. 1968). In 1987 the colony reached generation F56 and embryos were produced for cryopreservation by crossing heterozygous females to wild type males.

Related Strains

Strains carrying other alleles of Shh
004293   129-Shhtm2Amc/J
005623   B6.129S-Shhtm2(cre/ESR1)Cjt/J
005622   B6.Cg-Shhtm1(EGFP/cre)Cjt/J
003318   STOCK Shhtm1Amc/J
View Strains carrying other alleles of Shh     (4 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

Mammalian Phenotype Terms assigned by genotype

ShhHx/Shh+

        B10.D2/nSn-ShhHx/J
  • limbs/digits/tail phenotype
  • abnormal talus morphology (MGI Ref ID J:87798)
    • short talus
  • polydactyly (MGI Ref ID J:87798)
    • preaxial polydactyly
    • supernumerary metacarpals, metatarsals, and digits
    • hemimelia caused by shortening of the radius, tibia, and talus
    • hindlimbs usually more affected than forelimbs
  • short radius (MGI Ref ID J:87798)
  • short tibia (MGI Ref ID J:87798)
  • skeleton phenotype
  • abnormal talus morphology (MGI Ref ID J:87798)
    • short talus
  • short radius (MGI Ref ID J:87798)
  • short tibia (MGI Ref ID J:87798)
  • homeostasis/metabolism phenotype
  • increased bleeding time (MGI Ref ID J:31800)
    • bleeding time is increased 2.6- to 3-fold compared to controls
    • however platelet numbers and function appear normal

ShhHx/Shh+

        B10.D2-H2d/nSnJ-ShhHx
  • limbs/digits/tail phenotype
  • polydactyly (MGI Ref ID J:13476)
    • both forefeet have preaxial polydactyly
    • the polydactyly in the hind feet arises as a duplication of the terminal phalanx of either the first or fifth toe
  • short radius (MGI Ref ID J:13476)
    • in the forelimbs, one or both or neither radius are foreshortened
  • short tibia (MGI Ref ID J:13476)
    • tibias are either absent or greatly reduced in size
  • skeleton phenotype
  • short radius (MGI Ref ID J:13476)
    • in the forelimbs, one or both or neither radius are foreshortened
  • short tibia (MGI Ref ID J:13476)
    • tibias are either absent or greatly reduced in size

ShhHx/ShhHx

        B10.D2/nSn-ShhHx/J
  • limbs/digits/tail phenotype
  • abnormal talus morphology (MGI Ref ID J:87798)
    • short talus
  • abnormal tibia morphology (MGI Ref ID J:121866)
    • tibia hemimelia
  • polydactyly (MGI Ref ID J:87798)
    • preaxial polydactyly
    • supernumerary metacarpals, metatarsals, and digits
    • hemimelia caused by shortening of the radius, tibia, and talus
    • hindlimbs usually more affected than forelimbs
    • 100% preaxial polydactyly
    • tripharangeal digit 1
  • short radius (MGI Ref ID J:87798)
  • skeleton phenotype
  • abnormal talus morphology (MGI Ref ID J:87798)
    • short talus
  • abnormal tibia morphology (MGI Ref ID J:121866)
    • tibia hemimelia
  • short radius (MGI Ref ID J:87798)

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

ShhHx/Shh+

        C3Fe.Cg-ShhHx
  • limbs/digits/tail phenotype
  • polydactyly (MGI Ref ID J:68687)
    • preaxial polydactyly and normal tibia

ShhHx/ShhHx

        C3Fe.Cg-ShhHx
  • limbs/digits/tail phenotype
  • polydactyly (MGI Ref ID J:68687)
    • all four feet show preaxial polydactyly with six to eight digits
  • short radius (MGI Ref ID J:68687)
    • few cases show shorting of the radius
  • short tibia (MGI Ref ID J:68687)
    • all show shortening of the tibia
  • syndactyly (MGI Ref ID J:68687)
    • the bones of the extra preaxial digits tend to be fused
  • skeleton phenotype
  • short radius (MGI Ref ID J:68687)
    • few cases show shorting of the radius
  • short tibia (MGI Ref ID J:68687)
    • all show shortening of the tibia

Research Applications

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

ShhHx related

Developmental Biology Research
Skeletal Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol ShhHx
Allele Name hemimelic extra toes
Strain of OriginB10.D2-Hc1 H2d H2-T18c/nSnJ
Gene Symbol and Name Shh, sonic hedgehog
Chromosome 5
Gene Common Name(s) Dsh; HHG1; HLP3; HPE3; Hhg1; Hx; Hxl3; M100081; MCOPCB5; SMMCI; TPT; TPTPS; hedgehog gene 1; hemimelic extra toes; hemimelic extratoes like 3; short digits;
General Note Heterozygotes have preaxial polydactyly on all four feet. They are fertile but some males do not breed, possibly because their crippled limbs prevent them from mating successfully (J:13476). Homozygotes usually die during gestation, probably early in embryogenesis, but some may survive to birth (J:10340). In heterozygotes, hindlimbs are always more severely affected than forelimbs. Typical expression includes shortening of the radius, tibia, and talus with supernumerary metacarpals, metatarsals, and digits. The supernumerary digits are always preaxial. The fibula and ulna are normal in size but often bowed. The humerus, femur, and limb girdles are normal (J:31035). Heterozygotes can be identified by day 11 or 12 of gestation. Knudsen and Kochhar (J:31035) have described embryonic development of the hindlimbs in detail. Hx is located very close to hammer toe, Hm, but the two genes are not allelic. They have very different effects on the feet, and one recombinant has been found in 1664 offspring of double backcrosses (J:13913).
Molecular Note This spontaneous mutation is the result of a G to A transition in a conserved Shh enhancer element located in intron 5 of Lmbr1. The mutation is located about 145 bp 3' of the Hxl3 mutation. [MGI Ref ID J:87798]

Genotyping

Genotyping Information

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

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

ShhHx related

Blanc I; Bach A; Robert B. 2002. Unusual pattern of Sonic hedgehog expression in the polydactylous mouse mutant Hemimelic extra-toes. Int J Dev Biol 46(7):969-74. [PubMed: 12455636]  [MGI Ref ID J:104869]

Buscher D; Ruther U. 1998. Expression profile of Gli family members and Shh in normal and mutant mouse limb development. Dev Dyn 211(1):88-96. [PubMed: 9438426]  [MGI Ref ID J:45211]

Dickie MM. 1968. Hemimelic extra toes, Hx Mouse News Lett 38:24.  [MGI Ref ID J:13476]

Heus HC; Luijsterburg AJ; van Baren MJ; Breedveld GJ; Joosse MN; Nieuwenhuizen IM; Vermeij-Keers C; Oostra BA; Heutink P. 2001. Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction. Mamm Genome 12(1):77-9. [PubMed: 11178748]  [MGI Ref ID J:68687]

Knudsen TB; Kochhar DM. 1981. The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation Hemimelia-extra toe (Hmx). J Embryol Exp Morphol 65 Suppl:289-307. [PubMed: 7334311]  [MGI Ref ID J:31035]

Martin GR; Richman M; Reinsch S; Nadeau JH; Joyner A. 1990. Mapping of the two mouse engrailed-like genes: close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemimelic extra-toes (Hx) on chromosome 5. Genomics 6(2):302-8. [PubMed: 2307472]  [MGI Ref ID J:10340]

Masuya H; Sagai T; Wakana S; Moriwaki K; Shiroishi T. 1995. A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev 9(13):1645-53. [PubMed: 7628698]  [MGI Ref ID J:27442]

Masuya H; Sezutsu H; Sakuraba Y; Sagai T; Hosoya M; Kaneda H; Miura I; Kobayashi K; Sumiyama K; Shimizu A; Nagano J; Yokoyama H; Kaneko S; Sakurai N; Okagaki Y; Noda T; Wakana S; Gondo Y; Shiroishi T. 2007. A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud. Genomics 89(2):207-14. [PubMed: 17049204]  [MGI Ref ID J:121866]

Rusiniak ME; O'Brien EP; Novak EK; Barone SM; McGarry MP; Reddington M; Swank RT. 1996. Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time. Mamm Genome 7(2):98-102. [PubMed: 8835524]  [MGI Ref ID J:31800]

Sagai T; Hosoya M; Mizushina Y; Tamura M; Shiroishi T. 2005. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development 132(4):797-803. [PubMed: 15677727]  [MGI Ref ID J:96968]

Sagai T; Masuya H; Tamura M; Shimizu K; Yada Y; Wakana S; Gondo Y; Noda T; Shiroishi T. 2004. Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). Mamm Genome 15(1):23-34. [PubMed: 14727139]  [MGI Ref ID J:87798]

Southard JL. 1971. Soft coat and hemimelic extra toes. Mouse News Lett 45:29.  [MGI Ref ID J:13518]

Sweet HO. 1982. Hm and Hx are not alleles Mouse News Lett 66:66.  [MGI Ref ID J:13913]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Pricing for USA, Canada and Mexico shipping destinations             View   International   Pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    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.

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

Pricing for International shipping destinations             View   USA, Canada and Mexico   Pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    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.

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

General Terms and Conditions

View JAX® Mice & Services Conditions 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.
Ordering and Purchasing Information

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