JAX Mouse Strain Datasheet - 025121

STOCK Tnfsf11^gum/GrsrJ

Stock No:: 025121 |; gummy

Spontaneous Mutation

Cryo Recovery

Overview

Also Known As: gummy

This spontaneous mutation provides a model for autosomal recessive osteopetrosis 2. Homozygotes have significant osteopetrosis, craniofacial deformities, failure of tooth eruption, smaller body size, reduced fertility and, in a few homozygotes, muscular dystrophy.

Genetic overview

Genetic Background	Generation

Tnfsf11^gum

Allele Type	Gene Symbol	Gene Name
Spontaneous (Null/Knockout)	Tnfsf11	tumor necrosis factor (ligand) superfamily, member 11

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Research Applications

Developmental Biology Research
Internal/Organ Research
Reproductive Biology Research

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the gummy intragenic inversion have osteopetrotic bone development with dramatically denser bones, filled medullary spaces in the long bones, failed tooth eruption, and a much smaller overall body size. The skulls are severely effected with highly thickened bone, high levels of ossification in the hyoid and zygomatic arches, absent maxillary-premaxillary sutures, severely misshapen mandible, and what appears to be an additional tooth in the area of the mandibular foramina even though the teeth fail to erupt. As a result the head is misshapen. Whole body areal bone mineral density is significantly higher. Some homozygotes develop facial abscesses, and a few homozygotes have histologic signs of dystrophic muscle, with small muscle fibers and evidence of muscle fiber degeneration and regeneration. Tail length is proportionally shorter. Homozygous males have reduced fertility possibly due to decreased sperm motility, and pups born to homozygous females all die within a day of birth, likely due to failure of females to lactate, which is suggested by the absence of a milk spot. Heterozygotes are viable and fertile.

Development

The gummy intragenic inversion arose spontaneously in STOCK Tg(Myh6-cre)1Jmk/J at The Jackson Laboratory. That strain was a mix of FVB, C57BL/6J, and C3H/HeJ. The mutant sub-strain was outcrossed once to C57BL/6J to remove the transgene and subsequently maintained by sibling intercrossing heterozgyotes. Sperm was cryopreserved from homozygous males and standard cryorecovery is scheduled to use C57BL/6J oocytes.

Control Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Palmer K; Fairfield H; Borgeia S; Curtain M; Hassan MG; Dionne L; Yong Karst S; Coombs H; Bronson RT; Reinholdt LG; Bergstrom DE; Donahue LR; Cox TC; Murray SA. 2016. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol 415(2):216-27. PubMed: 26234751 MGI: J:223062

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Genetics

Tnfsf11^gum

Allele Symbol: Tnfsf11^gum

Allele Name	gummy
Allele Type	Spontaneous (Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	Tnfsf11, tumor necrosis factor (ligand) superfamily, member 11
Gene Synonym(s)	CD254; Ly109l; ODF; OPGL; OPTB2; RANKL; TNF-related activation-induced cytokine; TNLG6B; TRANCE; Trance; Trance; hRANKL2; osteoclast differentiation factor; sOdf
Strain of Origin	STOCK Tg(Myh6-cre)1Jmk/J
Chromosome	14
Molecular Note	A spontaneous 4.7 kb inversion from Chromosome 14 78,279,775 bp to 78,284,475 bp (GRCm38/mm10) has breakpoints in the introns between exons 2 and 3 and 4 and 5, leaving the exons intact but exons 3 and 4 inverted.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Tnfsf11^gum related

Developmental Biology Research
- Craniofacial and Palate Defects
- Growth Defects
  - Growth Defects (homozygous)
- Skeletal Defects
  - teeth
Internal/Organ Research
- Skeleton
  - Bone
  - teeth
Reproductive Biology Research
- Fertility Defects

Mammalian Phenotype Terms by Genotype

Genotype: Tnfsf11^gum/Tnfsf11^gum
STOCK Tnfsf11^gum/GrsrJ

behavior/neurological phenotype

abnormal maternal nurturing
- pups of homozygous females all die postnatally, consistent with failed lactation

muscle phenotype

dystrophic muscle
- pathology showed small muscle fibers, muscle fiber degeneration, and regeneration in 4 of 6 homozygotes

reproductive system phenotype

reduced fertility
- homozygotes have reduced fertility

skeleton phenotype

abnormal areal bone mineral density
- whole body areal bone mineral density is higher than normal but skull BMC and skull to body areal bone mineral density ratio are lower than normal due to the smaller head size

abnormal cranial suture morphology

abnormal craniofacial bone morphology
- dramatic ossification of the skull, particularly high levels of ossification of the hyoid and zygomatic arches, failed tooth eruption, and severely misshapen mandible result in an abnormal head shape

abnormal hyoid bone body morphology
- high levels of ossification

abnormal long bone internal diameter
- dramatically denser bones have completely filled medullary space in the long bones

abnormal zygomatic bone morphology
- high levels of ossification

decreased internal diameter of femur

failure of tooth eruption
- teeth are present but fail to erupt

increased areal bone mineral density

increased bone mineral content

mandible hypoplasia
- the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen

osteopetrosis
- homozygotes have dramatically denser bones and completely filled medullary space in the long bones and the bone of the skull is dramatically denser than normal

small cranium
- The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches

supernumerary teeth
- an additional tooth in or around the mandibular foramina

craniofacial phenotype

abnormal cranial suture morphology

abnormal craniofacial bone morphology
- dramatic ossification of the skull, particularly high levels of ossification of the hyoid and zygomatic arches, failed tooth eruption, and severely misshapen mandible result in an abnormal head shape

abnormal hyoid bone body morphology
- high levels of ossification

abnormal zygomatic bone morphology
- high levels of ossification

failure of tooth eruption
- teeth are present but fail to erupt

mandible hypoplasia
- the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen

small cranium
- The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches

supernumerary teeth
- an additional tooth in or around the mandibular foramina

growth/size/body region phenotype

decreased body size
- homozygots are much smaller than littermate controls

decreased body weight
- consistent with significantly smaller overall body size, the body weight of homozygous males and females is less than normal

decreased lean body mass

failure of tooth eruption
- teeth are present but fail to erupt

supernumerary teeth
- an additional tooth in or around the mandibular foramina

limbs/digits/tail phenotype

abnormal tail length
- proportionally shorter tail length

decreased internal diameter of femur

References

Palmer K; Fairfield H; Borgeia S; Curtain M; Hassan MG; Dionne L; Yong Karst S; Coombs H; Bronson RT; Reinholdt LG; Bergstrom DE; Donahue LR; Cox TC; Murray SA. 2016. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol 415(2):216-27. PubMed: 26234751 MGI: J:223062

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous for Tnfsf11<gum>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Related Products and Services

Frozen Mouse Embryo

$2,595.00 per straw or vial

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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.

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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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Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

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Also Known As: gummy

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Tnfsf11gum

Allele Symbol: Tnfsf11gum

Disease Terms

Research Areas By Genotype

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

Genotype: Tnfsf11gum related

Mammalian Phenotype Terms by Genotype

Genotype: Tnfsf11gum/Tnfsf11gumSTOCK Tnfsf11gum/GrsrJ

behavior/neurological phenotype

muscle phenotype

reproductive system phenotype

skeleton phenotype

craniofacial phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

References

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Tnfsf11^gum

Allele Symbol: Tnfsf11^gum

Genotype: Tnfsf11^gum related

Genotype: Tnfsf11^gum/Tnfsf11^gum
STOCK Tnfsf11^gum/GrsrJ