Overview

Also Known As:brachymorphic

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Allele Type	Gene Symbol	Gene Name
Spontaneous	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2

Research Applications

Developmental Biology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Development

The mahogany mutation arose on a mixed C3H;Swiss background at the Jackson Laboratory, and was initially maintained by sibling inbreeding. The brachymorphic mutation arose spontaneously in the mahogany line when it was at generation F12 in 1964. Brachymorphic was outcrossed once to C57BL/6J and then the line was sibling mated. At generation F15, in 1969, a homozygous brachymorphic mouse was outcrossed to a mouse homozygous for pale ear and ruby on a congenic C57BL/6J background. The F1 offspring of this cross were mated and selected F2 hybrids were then mated to produce the triple homozygote with all three loci on the same chromosome. The triple homozygote in which all three loci were closely linked was crossed once to C57BL/6J and then the stock was sibling intercrossed by forced heterozygosis to F7 before it was crossed to the B6C3Fe-a/a F1 hybrid beginning in 1972. Backcrossing to the hybrid was continued using the cross intercross method and a subline was selected that had pale ear and ruby bred out. This strain, carrying only brachymorphic, was maintained by backcross-intercross breeding to B6C3Fe-a/a F1 and embryos were generated for cryopreservation by breeding homozygous males at generation N23F1 to B6C3Fe-a/a F1 females.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Papss2^bm

Allele Symbol: Papss2^bm

Allele Name	brachymorphic
Allele Type	Spontaneous
Allele Synonym(s)	bm
Gene Symbol and Name	Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Gene Synonym(s)
Strain of Origin	LDJ/Le-Grem1^ld-J + a/ + Atrn^mg a
Chromosome	19
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.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

spondyloepimetaphyseal dysplasia, Pakistani type

Research Areas By Phenotype

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

Genotype: Papss2^bm related

Developmental Biology Research
- Growth Defects
- Skeletal Defects
Mouse/Human Gene Homologs
- Arthritis

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Papss2^bm/Papss2^bm
LDJ/Le

growth/size/body region phenotype

decreased body length
- body length is 90% of normal

abnormal body weight
- 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

cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- increased sensitivity to hydrocortisone induced development of cleft palate

postnatal growth retardation
- retarded growth rate during first 4 weeks of life
- body length about 90% normal
- eventually attain near normal body weight

malocclusion
- in some cases leads to death

limbs/digits/tail phenotype

short tail
- tail length is about 69% of normal

thick tail

abnormal tail morphology

mortality/aging

premature death
- a few mutants die from malocclusion

skeleton phenotype

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal plate proliferative zone
- proliferating cartilage cell columns are shorter

decreased cranium height
- skull length is 89% of normal

malocclusion
- in some cases leads to death

domed cranium
- short, domed skull

abnormal trabecular bone morphology
- primary trabeculae are shorter, less numerous, and not aligned as well as in controls

decreased length of long bones
- limb bones from 63 to 86% of normal length

decreased long bone epiphyseal plate size
- thinner epiphyseal plates

decreased width of hypertrophic chondrocyte zone

craniofacial phenotype

domed cranium
- short, domed skull

decreased cranium height
- skull length is 89% of normal

malocclusion
- in some cases leads to death

cleft palate
- increased sensitivity to hydrocortisone induced development of cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention

digestive/alimentary phenotype

abnormal digestive system morphology
- at 30 days of age the gut length was 91% of normal
- by 60 days of age, gut length was normal

cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- increased sensitivity to hydrocortisone induced development of cleft palate

Genotype: Papss2^bm/Papss2^bm
involves: C57BL/6J * LDJ/Le

craniofacial phenotype

domed cranium

growth/size/body region phenotype

disproportionate dwarf
- homozygotes have a disproportionately short stature with shortened long bones and shortened tails

immune system phenotype

arthritis
- severe degenerative knee joint disease is found at 12 months of age in both males and females

skeleton phenotype

abnormal long bone epiphyseal plate morphology
- te is only 44 to 67% of normal size with both the columnar and hypertrophic zones markedly reduced in size, notably the hypertrophic region is often only 3 to 4 cells in height at 16 days of age
- the growth plate is abnormally straight
- at 5 days of age there is a reduction in size in each zone of tibial and femoral epiphyseal cartilage growth, wih the tibial cartilaginous epiphyseal plate from synovial space to metaphysis only 81% of normal size, and by 16 days of age the epiphyseal plate is only 44 to 67% of normal size with both the columnar and hypertrophic zones markedly reduced in size, notably the hypertrophic region is often only 3 to 4 cells in height at 16 days of age

decreased long bone epiphyseal plate size

abnormal long bone epiphyseal plate proliferative zone

decreased width of hypertrophic chondrocyte zone

domed cranium

abnormal cartilage development
- analysis of glycosaminoglycans from mesenchymal cultures of embryonic day 11 limb buds reveals significant undersulphation of chondroitin sulfate

arthritis
- severe degenerative knee joint disease is found at 12 months of age in both males and females

Genotype: Papss2^bm/Papss2^bm
involves: LDJ/LeJ

skeleton phenotype

abnormal skeleton development
- the length of femora and tibiae is shorter than normal in pre-wean homozygotes and growth is severely interupted at weaning, between 21 and 28 days of age, before resuming slow growth

abnormal long bone epiphyseal plate morphology
- at 3 weeks of age and more severe at 6 weeks of age many of the tibial and femural proliferating chondrocytes have pyknotic nuclei, there is a complete disarrangement of the columnar pattern, the primary spongiosa is disorderly and the primary spicules are stubby
- e stubby

abnormal long bone epiphyseal plate proliferative zone
- at 3 weeks of age the tibial and femural growth zones are narrow and the columnar pattern is irregular due to a mild increase in intercolumnar matrix

abnormal bone ossification
- endochondral ossification has failed chondrocyte hypertrophy and disorientation of the cartilage closest to the metaphysis

abnormal chondrocyte physiology
- chondrocytes fail to undergo hypertrophy and to deposit glycogen

The following phenotype relates to a compound genotype created using this strain

Genotype: Papss2^bm/Papss2^bm
B6C3Fe a/a-Papss2/J

homeostasis/metabolism phenotype

increased bleeding time
- Normal - platelet numbers and function appear normal
- bleeding time is increased 2.6- to 3-fold compared to controls

skeleton phenotype

abnormal long bone epiphyseal plate morphology

abnormal long bone hypertrophic chondrocyte zone
- and ill-defined
- electron micrographs of the hypertrophic zones at 16 days of age shows matrix vesicles and fibrous structures in the lacuna that are not present in controls
- the pattern of hypertrophic cells in the hypertrophic zone of tibiae from 16 and 25 day old homozygotes is severely disturbed with most of the cells polygonal and irregularly shaped and often containing pyknotic nuclei, and the lacunar matrix being dense and ill-defined

abnormal chondrocyte morphology
- many of the chondrocytes from upper tibia of 16 and 25 day old homozygotes are irregular in shape with pycnotic nuclei and this is more pronounced in the distal portion of the proliferative zone
- electron micrographs of hypertrophic and proliferative chondrocytes show morphological abnormalities including distention of the endoplasmic reticular cisternae

abnormal long bone epiphyseal plate proliferative zone
- Background Sensitivity - proliferative zone of the upper tibia at 16 and 25 days of age is reduced in height and has irregular cell columns with some areas distinctly disorganized and others fairly normal

abnormal endochondral bone ossification
- rtilage and the fine fibrils of the lacunar matrix lack the typical collagen periodicity
- the pattern of mineralization in tibial proximal epiphyseal plate is irregular and patchy, cells of the mineralization zone have pyknotic nuclei and lack the normal cytoplasic vacuolization, and, distinct from controls, type V collagen is found in this cartilage and the fine fibrils of the lacunar matrix lack the typical collagen periodicity

abnormal cartilage development
- assessment at 5 days of age reveals undersulfated glycosaminoglycans in the epiphyses of the distal femoral head and proximal tibial head

chondrodystrophy

References

Additional - a related

Additional - Papss2^bm related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

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.
- Additional Breeding and Husbandry Support
Appearance
- black, limb defects
  Related Genotype: a/a Papss2^bm/Papss2^bm
  
  black, unaffected
  Related Genotype: a/a Papss2^bm/+ or a/a ?/+
Citation
When using the brachymorphic mouse strain in a publication, please cite the originating article(s) and include JAX stock #000205 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for a, Heterozygous for bm

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.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:brachymorphic

Genetic overview

Research Applications

Base Price

Development

Control Suggestions

Additional Information

a

Allele Symbol: a

Papss2bm

Allele Symbol: Papss2bm

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Papss2bm related

Mammalian Phenotype Terms by Genotype

Genotype: Papss2bm/Papss2bmLDJ/Le

growth/size/body region phenotype

limbs/digits/tail phenotype

mortality/aging

skeleton phenotype

craniofacial phenotype

digestive/alimentary phenotype

Genotype: Papss2bm/Papss2bminvolves: C57BL/6J * LDJ/Le

craniofacial phenotype

growth/size/body region phenotype

immune system phenotype

skeleton phenotype

Genotype: Papss2bm/Papss2bminvolves: LDJ/LeJ

skeleton phenotype

Genotype: Papss2bm/Papss2bmB6C3Fe a/a-Papss2/J

homeostasis/metabolism phenotype

skeleton phenotype

References

Additional - a related

Additional - Papss2bm related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Papss2^bm

Allele Symbol: Papss2^bm

Genotype: Papss2^bm related

Genotype: Papss2^bm/Papss2^bm
LDJ/Le

Genotype: Papss2^bm/Papss2^bm
involves: C57BL/6J * LDJ/Le

Genotype: Papss2^bm/Papss2^bm
involves: LDJ/LeJ

Genotype: Papss2^bm/Papss2^bm
B6C3Fe a/a-Papss2/J

Additional - Papss2^bm related