Overview

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.

Genetic overview

Genetic Background	Generation

Ddr2^slie

Allele Type	Gene Symbol	Gene Name
Spontaneous	Ddr2	discoidin domain receptor family, member 2

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Research Applications

Endocrine Deficiency Research
Developmental Biology Research
Reproductive Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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 Cpe^fat/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 Cpe^fat have been selectively bred out.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

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):1866-80PubMed: 18483174 MGI: J:134371

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Genetics

Ddr2^slie

Allele Symbol: Ddr2^slie

Allele Name	smallie
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Ddr2, discoidin domain receptor family, member 2
Gene Synonym(s)
Strain of Origin	BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpe^fat/LtJng
Chromosome	1
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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Endocrine Deficiency Research
- Bone/Bone Marrow Defects
- Hypothalamus/Pituitary Defects
Developmental Biology Research
- Craniofacial and Palate Defects
- Growth Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
- Fertility Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Ddr2^slie/Ddr2^slie
BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpe/LtJng

adipose tissue phenotype

decreased percent body fat/body weight
- significant decrease in percentage of body fat at 5-6 months as compared to wildtype

homeostasis/metabolism phenotype

decreased blood urea nitrogen level

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

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

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

increased circulating glucose level

mortality/aging

decreased survivor rate
- 15% of homozygotes die before 3 months of age and 47% die by 6 months

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

reproductive system phenotype

abnormal male germ cell apoptosis
- atrophy is observed in spermatogonia, Leydig and Serotoli cells at 4 months

abnormal spermatid morphology
- number of spermatids is reduced in 4 month old mice, but not in 6 week old mice

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

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

anovulation
- females are anovulatory
- 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

female infertility
- female homozygote matings to wildtype fail to produce offspring

reduced male fertility
- occasionally homozygote males crossed to heterozygote or wildtype females produce offspring

cellular phenotype

abnormal male germ cell apoptosis
- atrophy is observed in spermatogonia, Leydig and Serotoli cells at 4 months

abnormal spermatid morphology
- number of spermatids is reduced in 4 month old mice, but not in 6 week old mice

skeleton phenotype

decreased bone mineral content
- bone mineral content is reduced in comparison to wildtype, however density is not reduced

vision/eye phenotype

exophthalmos
- protuberant eyes are observed by four months of age

craniofacial phenotype

short snout
- snub nose is visible by four months of age

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

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

growth/size/body region phenotype

disproportionate dwarf

increased lean body mass
- significant increase in percentage of lean mass at 5-6 months as compared to wildtype

short snout
- snub nose is visible by four months of age

slow postnatal weight gain
- after weaning weight gain is slower than wildtype
- homozygotes do not exhibit juvenile growth spurt

References

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):1866-80PubMed: 18483174 MGI: J:134371

Additional - Ddr2^slie related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- QPCR:Ddr2/JngJ
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes are infertile.
- Additional Breeding and Husbandry Support
Appearance
- black
  Related Genotype: a/a
Citation
When using the BKS(HRS)-Ddr2^slie/JngJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #008172 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
	Heterozygous or wildtype for Ddr2<slie>

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

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Ddr2slie

Allele Symbol: Ddr2slie

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Ddr2slie/Ddr2slieBKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpe/LtJng

adipose tissue phenotype

homeostasis/metabolism phenotype

mortality/aging

nervous system phenotype

reproductive system phenotype

cellular phenotype

skeleton phenotype

vision/eye phenotype

craniofacial phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

References

Additional - Ddr2slie 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

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Ddr2^slie

Allele Symbol: Ddr2^slie

Genotype: Ddr2^slie/Ddr2^slie
BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpe/LtJng

Additional - Ddr2^slie related