Strain Name:

BKS(HRS)-Ddr2slie/JngJ

Stock Number:

008172

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Availability:

Cryopreserved - Ready for recovery

Mice homozygous for the spontaneous mutation smallie (slie) in the Ddr2 (discoidin domain receptor family, member 2) gene appear normal at birth but by weaning they exhibit dwarfism and minor craniofacial abnormalities. Homozygous females lack a corpora lutea by six weeks. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility.

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 Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
H2 Haplotyped
Generation?+F5pN1
Generation Definitions

Appearance
black
Related Genotype: a/a

Description
Mice homozygous for this mutation appear normal at birth. By weaning, they exhibit a reduced body mass, gain weight slower and display minor craniofacial abnormalities such as protruding eyes and a shortened snout. Bone mineral content, but not density is reduced in homozygotes. Plasma glucose levels are significantly increased while blood urea nitrogen levels are decreased in homozygotes. By six weeks, it can be seen that homozygous females lack a corpora lutea. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility.

Development
This recessive mutation arose spontaneously in the BKSChpLt(HRS)-Tg(Ins2-Cpe)1Lt Cpefat/LtJng colony in the laboratory of Dr. Jurgen Naggert, The Jackson Laboratory. Mice homozygous for the mutation are infertile, therefore, a heterozygous sibling was crossed to C57BLKS/J. The colony then was established by sibling mating. The mutations Tg(Ins2-Cpe)1Lt and Cpefat have been selectively bred out.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Dwarfism, Levi Type
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type   (DDR2)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Ddr2slie/Ddr2slie

        BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpefat/LtJng
  • mortality/aging
  • decreased survivor rate
    • 15% of homozygotes die before 3 months of age and 47% die by 6 months   (MGI Ref ID J:134371)
  • endocrine/exocrine gland phenotype
  • absent corpus luteum
    • corpora lutea is absent in 6 week old and 4 month old females, however, pre-antral, antral and Graffian follicles appear normal   (MGI Ref ID J:134371)
  • small pituitary gland
    • proportion of pituitary gland area to whole brain area is reduced as compared to wildtype at 4 weeks, however, size difference disappears by adulthood   (MGI Ref ID J:134371)
  • growth/size/body phenotype
  • decreased percent body fat
    • significant decrease in percentage of body fat at 5-6 months as compared to wildtype   (MGI Ref ID J:134371)
  • disproportionate dwarf   (MGI Ref ID J:134371)
  • increased lean body mass
    • significant increase in percentage of lean mass at 5-6 months as compared to wildtype   (MGI Ref ID J:134371)
  • short snout
    • snub nose is visible by four months of age   (MGI Ref ID J:134371)
  • slow postnatal weight gain
    • after weaning weight gain is slower than wildtype   (MGI Ref ID J:134371)
    • homozygotes do not exhibit juvenile growth spurt   (MGI Ref ID J:134371)
  • adipose tissue phenotype
  • decreased percent body fat
    • significant decrease in percentage of body fat at 5-6 months as compared to wildtype   (MGI Ref ID J:134371)
  • craniofacial phenotype
  • short snout
    • snub nose is visible by four months of age   (MGI Ref ID J:134371)
  • homeostasis/metabolism phenotype
  • decreased blood urea nitrogen level   (MGI Ref ID J:134371)
  • decreased circulating estradiol level
    • following injection of exogenous gonadotropin in 12-14 week old mice, estradiol levels are lower than adult wildtype and similar to prepubertal wildtype   (MGI Ref ID J:134371)
  • decreased circulating progesterone level
    • following injection of exogenous gonadotropin in 12-14 week old mice, progesterone levels are lower than adult wildtype and similar to prepubertal wildtype   (MGI Ref ID J:134371)
  • decreased circulating testosterone level
    • following injection of exogenous gonadotropin in 12-14 week old mice, testosterone levels are lower than adult wildtype and similar to prepubertal wildtype   (MGI Ref ID J:134371)
  • increased circulating glucose level   (MGI Ref ID J:134371)
  • vision/eye phenotype
  • exophthalmos
    • protuberant eyes are observed by four months of age   (MGI Ref ID J:134371)
  • skeleton phenotype
  • decreased bone mineral content
    • bone mineral content is reduced in comparison to wildtype, however density is not reduced   (MGI Ref ID J:134371)
  • reproductive system phenotype
  • abnormal male germ cell apoptosis
    • atrophy is observed in spermatogonia, Leydig and Serotoli cells at 4 months   (MGI Ref ID J:134371)
  • abnormal spermatid morphology
    • number of spermatids is reduced in 4 month old mice, but not in 6 week old mice   (MGI Ref ID J:134371)
  • abnormal vagina orifice morphology
    • following injection of exogenous gonadotropin in 12-14 week old mice, vaginal opening is observed in 100% of prepubertal wildtype and 80% of adult homozygotes, however, the condition is pre-existing in wildtype 12-14 week old mice   (MGI Ref ID J:134371)
  • absent corpus luteum
    • corpora lutea is absent in 6 week old and 4 month old females, however, pre-antral, antral and Graffian follicles appear normal   (MGI Ref ID J:134371)
  • anovulation
    • females are anovulatory   (MGI Ref ID J:134371)
    • following injection of PMSG and hCG at 6 weeks follicular growth to the Graffian stage is induced, but, full luteinization of thecal cells does not occur   (MGI Ref ID J:134371)
  • female infertility
    • female homozygote matings to wildtype fail to produce offspring   (MGI Ref ID J:134371)
  • reduced male fertility
    • occasionally homozygote males crossed to heterozygote or wildtype females produce offspring   (MGI Ref ID J:134371)
  • nervous system phenotype
  • small pituitary gland
    • proportion of pituitary gland area to whole brain area is reduced as compared to wildtype at 4 weeks, however, size difference disappears by adulthood   (MGI Ref ID J:134371)
  • cellular phenotype
  • abnormal male germ cell apoptosis
    • atrophy is observed in spermatogonia, Leydig and Serotoli cells at 4 months   (MGI Ref ID J:134371)
View Research Applications

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

Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects
Hypothalamus/Pituitary Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Ddr2slie
Allele Name smallie
Allele Type Spontaneous
Strain of OriginBKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpe/LtJng
Gene Symbol and Name Ddr2, discoidin domain receptor family, member 2
Chromosome 1
Gene Common Name(s) AW495251; MIG20a; NTRKR3; Ntrkr3; TKT; TYRO10; expressed sequence AW495251; neurotrophic tyrosine kinase, receptor related 3;
Molecular Note The mutation is a deletion of approximately 150kb encompassing most of the Ddr2 gene, of which genomic PCR analysis failed to amplify exons 1-17; exon 18 of this gene and the final exon of the proximal gene, Hsd17b7, both were amplified. [MGI Ref ID J:134371]

Genotyping

Genotyping Information

Genotyping Protocols

Ddr2slie/JngJ, QPCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Ddr2slie related

Kano K; Kitamura A; Matsuwaki T; Morimatsu M; Naito K. 2010. Discoidin domain receptor 2 (DDR2) is required for maintenance of spermatogenesis in male mice. Mol Reprod Dev 77(1):29-37. [PubMed: 19681157]  [MGI Ref ID J:157045]

Kano K; Marin de Evsikova C; Young J; Wnek C; Maddatu TP; Nishina PM; Naggert JK. 2008. A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse. Mol Endocrinol 22(8):1866-80. [PubMed: 18483174]  [MGI Ref ID J:134371]

Matsumura H; Kano K; de Evsikova CM; Young JA; Nishina PM; Naggert JK; Naito K. 2009. Transcriptome analysis reveals an unexpected role of a collagen tyrosine kinase receptor gene, Ddr2, as a regulator of ovarian function. Physiol Genomics 39(2):120-9. [PubMed: 19671659]  [MGI Ref ID J:155774]

Zhang S; Bu X; Zhao H; Yu J; Wang Y; Li D; Zhu C; Zhu T; Ren T; Liu X; Yao L; Su J. 2014. A host deficiency of discoidin domain receptor 2 (DDR2) inhibits both tumour angiogenesis and metastasis. J Pathol 232(4):436-48. [PubMed: 24293323]  [MGI Ref ID J:208068]

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

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice are bred as heterozygotes. Homozygotes are infertile.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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