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Former Names B6C3Fe a/a-Ptchmes/J (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N20 Appearance
black
Related Genotype: a/a Ptch1mes/+ or a/a ?/+
black with shortened face, wide set eyes, kinked tail, foot defects, belly spot and excessive skin
Related Genotype: a/a Ptchmes/PtchmesDescription
Mice homozygous for the mesenchymal dysplasia spontaneous mutation (mes) have a shortened face, wide set eyes, excessive skin, belly spot, kinked tail, preaxial polydactyly, and thickened foot pads. Homozygous mutant mice also display mineralization of tendons and multiple skeletal defects. Both sexes are infertile. Male mice have cryptorchid testes.Development
The mesenchymal dysplasia (mes) mutation arose spontaneously in 1981 on the CBA/J background at The Jackson Laboratory. Due to the sterility in homozygotes this mutation was maintained by cross-intercross breeding using ovarian transplantation from homozygous females and breeding the host females with B6C3Fe-a/a males then intercrossing their heterozygous offspring to generate homozygous females for ovarian transplantation (Sweet HO; Bronson RT, 1981). In 2004 this colony reached generation N40F1.
| Control | ||
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| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying a allele
View Strains carrying a (104 strains)
Strains carrying other alleles of Ptch1
003081 STOCK Ptch1tm1Mps/J View Strains carrying other alleles of Ptch1 (1 strain)
Strains carrying other alleles of a
View Strains carrying other alleles of a (81 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Ptch1mes/Ptch1mes
B6C3Fe a/a-Ptch1mes
- craniofacial phenotype
- shortened head (MGI Ref ID J:23861)
- endocrine/exocrine gland phenotype
- cryptorchism (MGI Ref ID J:23861)
- small preputial glands (MGI Ref ID J:32739)
- small seminal vesicle (MGI Ref ID J:32739)
- limbs/digits/tail phenotype
- abnormal foot pad morphology (MGI Ref ID J:32739)
- the foot pads are extremely thick and tough
- kinked tail (MGI Ref ID J:23861)
- polydactyly (MGI Ref ID J:23861)
- this is a preaxial condition
- short tail (MGI Ref ID J:23861)
- thick tail (MGI Ref ID J:32739)
- muscle phenotype
- abnormal tendon morphology (MGI Ref ID J:23861)
- alizarin preparations reveal mineralizartion of tendons
- pigmentation phenotype
- belly spot (MGI Ref ID J:23861)
- reproductive system phenotype
- abnormal spermatogenesis (MGI Ref ID J:32739)
- the result of cryptorchid testes
- cryptorchism (MGI Ref ID J:23861)
- female infertility (MGI Ref ID J:23861)
- ovaries function normally when transplanted into histocompatible hosts
- male infertility (MGI Ref ID J:23861)
- small preputial glands (MGI Ref ID J:32739)
- small seminal vesicle (MGI Ref ID J:32739)
- skeleton phenotype
- abnormal skeleton morphology (MGI Ref ID J:23861)
- there are multiple skeletal defects
- abnormal tendon morphology (MGI Ref ID J:23861)
- alizarin preparations reveal mineralizartion of tendons
- kyphosis (MGI Ref ID J:32739)
- the more severely mice display kyphosis in the shoulder region
- skin/coat/nails phenotype
- belly spot (MGI Ref ID J:23861)
- dermal hyperplasia (MGI Ref ID J:23861)
- excessive skin is in folds
- folds of skin obscure the eyes and cover leg joints
- vision/eye phenotype
- ocular hypertelorism (MGI Ref ID J:23861)
- behavior/neurological phenotype
- decreased fear-related response (MGI Ref ID J:32739)
- mice are very docile
- growth/size phenotype
- abnormal thoracic cavity (MGI Ref ID J:32739)
- the thorax seems smaller but it is wider in proportion to length
- renal/urinary system phenotype
- small preputial glands (MGI Ref ID J:32739)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Ptch1mes related
Dermatology Research
Skin and Hair Texture Defects
Developmental Biology Research
Craniofacial and Palate Defects
Skeletal Defects
Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects
| Allele Symbol | Ptch1mes | ||
|---|---|---|---|
| Allele Name | mesenchymal dysplasia | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | mes; | ||
| Strain of Origin | CBA/J | ||
| Gene Symbol and Name | Ptch1, patched homolog 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | A230106A15Rik; BCNS; FLJ26746; FLJ42602; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11; Patched 1; Ptch2; RIKEN cDNA A230106A15 gene; mes; mesenchymal dysplasia; | ||
| Molecular Note | A 32bp deletion causes a frameshift mutation, which generates a truncated protein with an aberrant 68-amino acid stretch in the C terminal cytoplasmic domain. [MGI Ref ID J:72380] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Makino S; Masuya H; Ishijima J; Yada Y; Shiroishi T. 2001. A Spontaneous Mouse Mutation, mesenchymal dysplasia (mes), Is Caused by a Deletion of the Most C-Terminal Cytoplasmic Domain of patched (ptc). Dev Biol 239(1):95-106. [PubMed: 11784021] [MGI Ref ID J:72380]
Ptch1mes relatedCaty V; Liu Y; Viau G; Bissonnette R. 2006. Multiple large surface photodynamic therapy sessions with topical methylaminolaevulinate in PTCH heterozygous mice. Br J Dermatol 154(4):740-2. [PubMed: 16536820] [MGI Ref ID J:110402]
Li Z; Zhang H; Denhard LA; Liu LH; Zhou H; Lan ZJ. 2008. Reduced white fat mass in adult mice bearing a truncated Patched 1. Int J Biol Sci 4(1):29-36. [PubMed: 18274621] [MGI Ref ID J:146351]
Makino S; Masuya H; Ishijima J; Yada Y; Shiroishi T. 2001. A Spontaneous Mouse Mutation, mesenchymal dysplasia (mes), Is Caused by a Deletion of the Most C-Terminal Cytoplasmic Domain of patched (ptc). Dev Biol 239(1):95-106. [PubMed: 11784021] [MGI Ref ID J:72380]
Moraes RC; Chang H; Harrington N; Landua JD; Prigge JT; Lane TF; Wainwright BJ; Hamel PA; Lewis MT. 2009. Ptch1 is required locally for mammary gland morphogenesis and systemically for ductal elongation. Development 136(9):1423-32. [PubMed: 19297414] [MGI Ref ID J:147994]
Nieuwenhuis E; Barnfield PC; Makino S; Hui CC. 2007. Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1. Dev Biol 308(2):547-60. [PubMed: 17631878] [MGI Ref ID J:124280]
Sweet HO; Bronson RT. 1988. Mesenchymal dysplasia (mes) Mouse News Lett 81:70. [MGI Ref ID J:23861]
Sweet HO; Bronson RT; Donahue LR; Davisson MT. 1996. Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouse. J Hered 87(2):87-95. [PubMed: 8830098] [MGI Ref ID J:32739]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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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 |
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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. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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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