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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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
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 Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Papss2bm allele
000278 B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J View Strains carrying Papss2bm (1 strain)
Phenotype
Phenotype Information
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).
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
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
Genes & Alleles
Gene & Allele Information
| 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 | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
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]
Health & husbandry
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.
Health & Colony Maintenance Information
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.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| 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.
Additional Supply Details
| 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Control Information
| 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. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
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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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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