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Strain Name: |
B6C3Fe a/a-Papss2bm/J |
Stock Number: |
000205 |
Availability:
| Repository-Cryopreserved |
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Mutant Stock |
| Additional information on
JAX® GEMM® Strains. |
| Type |
JAX® GEMM® Strain -
Spontaneous Mutation |
| Species | laboratory mouse |
| Generation | N24
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Appearance
black, limb defects
Related Genotype: a/a Papss2bm/Papss2bm
black, unaffected
Related Genotype: a/a Papss2bm/+ or a/a ?/+
Related Disease (OMIM) 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)
- 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 tail morphology
(MGI Ref ID J:5109)
- short tail
(MGI Ref ID J:5109)
- tail length is about 69% of normal
- thick tail
(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)
- 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
|
Gene & Allele Details
| Allele Symbol |
Papss2bm |
| Allele Name |
brachymorphic |
| Common Name(s) |
bm;
|
| Strain of Origin | LDJ/Le-Grem1 + a/ + Atrn a |
| Gene Symbol and Name |
Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
| Chromosome |
19 |
| Gene Common Name(s) |
1810018P12Rik;
AI159688;
ATPSK2;
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 |
Control 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. |
Related Strains
Strains carrying Papss2bm allele
View Strains carrying Papss2bm (1 strain)
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
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
References
Additional References
Price and Supply Information
| Strain Name: |
B6C3Fe a/a-Papss2bm/J |
| Stock Number: |
000205 |
Price Details
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Supply Details
| Standard Supply | Repository-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; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
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| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
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JAX® Mice & Services Conditions of Use.
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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.
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