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Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N24 Appearance
black, limb defects
Related Genotype: a/a Papss2bm/Papss2bm
black, unaffected
Related Genotype: a/a Papss2bm/+ or a/a ?/+
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Papss2bm allele
000278 B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J View Strains carrying Papss2bm (1 strain)
Strains carrying a allele
View Strains carrying a (104 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (81 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Spondyloepimetaphyseal Dysplasia, Pakistani Type - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Papss2bm/Papss2bm
B6C3Fe a/a-Papss2bm/J
- 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
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Papss2bm/Papss2bm
LDJ/Le
- life span-post-weaning/aging
- premature death (MGI Ref ID J:5109)
- a few mutants die from malocclusion
- craniofacial phenotype
- cleft palate (MGI Ref ID J:15031)
- increased sensitivity to hydrocortisone induced development of cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- domed skull (MGI Ref ID J:5109)
- short, domed skull
- longitudinally short skull (MGI Ref ID J:5109)
- skull length is 89% of normal
- malocclusion (MGI Ref ID J:5109)
- in some cases leads to death
- digestive/alimentary phenotype
- abnormal digestive system morphology (MGI Ref ID J:5109)
- at 30 days of age the gut length was 91% of normal
- by 60 days of age, gut length was normal
- cleft palate (MGI Ref ID J:15031)
- increased sensitivity to hydrocortisone induced development of cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- growth/size phenotype
- abnormal body weight (MGI Ref ID J:5109)
- organ weights at 30 days of age about 70-76% normal
- at 60 days of age organ weights varied between 78 and 140% of normal
- decreased body length (MGI Ref ID J:5109)
- body length is 90% of normal
- postnatal growth retardation (MGI Ref ID J:5109)
- retarded growth rate during first 4 weeks of life
- eventually attain near normal body weight
- body length about 90% normal
- limbs/digits/tail phenotype
- abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
- abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
- proliferating cartilage cell columns are shorter
- decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
- thinner epiphyseal plates
- decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
- abnormal tail morphology (MGI Ref ID J:5109)
- decreased length of long bones (MGI Ref ID J:49338)
- limb bones from 63 to 86% of normal length
- skeleton phenotype
- abnormal cancellous bone morphology (MGI Ref ID J:5109)
- primary trabeculae are shorter, less numerous, and not aligned as well as in controls
- abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
- abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
- proliferating cartilage cell columns are shorter
- decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
- thinner epiphyseal plates
- decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
- decreased length of long bones (MGI Ref ID J:49338)
- limb bones from 63 to 86% of normal length
- domed skull (MGI Ref ID J:5109)
- short, domed skull
- longitudinally short skull (MGI Ref ID J:5109)
- skull length is 89% of normal
- malocclusion (MGI Ref ID J:5109)
- in some cases leads to death
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Papss2bm related
Developmental Biology Research
Growth Defects
Skeletal Defects
Mouse/Human Gene Homologs
Arthritis
| Allele Symbol | Papss2bm | ||
|---|---|---|---|
| Allele Name | brachymorphic | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | bm; | ||
| Strain of Origin | LDJ/Le-Grem1 | ||
| Gene Symbol and Name | Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 1810018P12Rik; AI159688; ATPSK2; MGC189455; RIKEN cDNA 1810018P12 gene; SK2; bm; brachymorphic; expressed sequence AI159688; | ||
| Molecular Note | A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. [MGI Ref ID J:49338] [MGI Ref ID J:50114] | ||
| 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
Papss2bm relatedBoskey AL; Maresca M; Wikstrom B; Hjerpe A. 1991. Hydroxyapatite formation in the presence of proteoglycans of reduced sulfate content: studies in the brachymorphic mouse. Calcif Tissue Int 49(6):389-93. [PubMed: 1818763] [MGI Ref ID J:2664]
Cortes M; Baria AT; Schwartz NB. 2009. Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate. Development 136(10):1697-706. [PubMed: 19369399] [MGI Ref ID J:148017]
Hallgrimsson B; Brown JJ; Ford-Hutchinson AF; Sheets HD; Zelditch ML; Jirik FR. 2006. The brachymorph mouse and the developmental-genetic basis for canalization and morphological integration. Evol Dev 8(1):61-73. [PubMed: 16409383] [MGI Ref ID J:135803]
Hallgrimsson B; Lieberman DE; Liu W; Ford-Hutchinson AF; Jirik FR. 2007. Epigenetic interactions and the structure of phenotypic variation in the cranium. Evol Dev 9(1):76-91. [PubMed: 17227368] [MGI Ref ID J:147554]
Johnson DR. 1978. The growth of femur and tibia in three genetically distinct chondrodystrophic mutants of the house mouse. J Anat 125(2):267-75. [PubMed: 624676] [MGI Ref ID J:5934]
Kurima K; Warman ML; Krishnan S; Domowicz M; Krueger RC Jr; Deyrup A ; Schwartz NB. 1998. A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proc Natl Acad Sci U S A 95(15):8681-5. [PubMed: 9671738] [MGI Ref ID J:49338]
Lane PW; Dickie MM. 1968. Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered 59(5):300-8. [PubMed: 5713631] [MGI Ref ID J:5109]
Lyle S; Stanczak JD; Westley J; Schwartz NB. 1995. Sulfate-activating enzymes in normal and brachymorphic mice: evidence for a channeling defect. Biochemistry 34(3):940-5. [PubMed: 7827052] [MGI Ref ID J:22533]
Miller WA; Flynn-Miller KL. 1976. A chondroplastic, brachymorphic and stubby chondrodystophies in mice. J Comp Pathol 86(3):349-63. [PubMed: 939824] [MGI Ref ID J:5669]
Orkin RW; Pratt RM; Martin GR. 1976. Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice. Dev Biol 50(1):82-94. [PubMed: 1269836] [MGI Ref ID J:5640]
Orkin RW; Williams BR; Cranley RE; Poppke DC; Brown KS. 1977. Defects in the cartilaginous growth plates of brachymorphic mice. J Cell Biol 73(2):287-99. [PubMed: 67117] [MGI Ref ID J:5801]
Pennypacker JP; Kimata K; Brown KS. 1981. Brachymorphic mice (bm/bm): a generalized biochemical defect expressed primarily cartilage. Dev Biol 81(2):280-7. [PubMed: 7202842] [MGI Ref ID J:6468]
Pratt RM; Salomon DS; Diewert VM; Erickson RP; Burns R; Brown KS. 1980. Cortisone-induced cleft palate in the brachymorphic mouse. Teratog Carcinog Mutagen 1(1):15-23. [PubMed: 6119797] [MGI Ref ID J:15031]
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]
Sugahara K; Schwartz NB. 1979. Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice. Proc Natl Acad Sci U S A 76(12):6615-8. [PubMed: 230515] [MGI Ref ID J:30996]
Vanky P; Brockstedt U; Nurminen M; Wikstrom B; Hjerpe A. 2000. Growth parameters in the epiphyseal cartilage of brachymorphic (bm/bm) mice. Calcif Tissue Int 66(5):355-62. [PubMed: 10773105] [MGI Ref ID J:113058]
Wezeman FH; Bollnow MR. 1997. Immunohistochemical localization of fibroblast growth factor-2 in normal and brachymorphic mouse tibial growth plate and articular cartilage. Histochem J 29(6):505-14. [PubMed: 9248858] [MGI Ref ID J:41884]
ul Haque MF; King LM; Krakow D; Cantor RM; Rusiniak ME; Swank RT ; Superti-Furga A ; Haque S ; Abbas H ; Ahmad W ; Ahmad M ; Cohn DH. 1998. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet 20(2):157-62. [PubMed: 9771708] [MGI Ref ID J:50114]
Colony Maintenance
Breeding & Husbandry Extra shavings should be added until the wean is about 5-6 weeks old so that they can reach the food and water more easily.
| 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. | ||
Purchasing Information
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Contact Information
Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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