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Strain Name: |
BKS(HRS)-Ddr2slie/JngJ |
Stock Number: |
008172 |
Availability:
| Under Development for Distribution Colony |
| To register your interest in this strain go to the Strain Interest Form. |
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Spontaneous Mutation |
| Additional information on
JAX® GEMM® Strains. |
| Mating System | See Colony Maintenance
(Female x Male) |
|---|
| |
| Species | laboratory mouse |
| H2 Haplotype | d |
| Generation | N1+F
(19-AUG-08)
|
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|
Appearance
black
Related Genotype:
a/a
Strain 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.
Strain 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.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype
Ddr2slie/Ddr2slie
BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpefat/LtJng
- life span-post-weaning/aging
- decreased survivor rate
(MGI Ref ID J:134371)
- 15% of homozygotes die before 3 months of age and 47% die by 6 months
- endocrine/exocrine gland phenotype
- absent corpus luteum
(MGI Ref ID J:134371)
- 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
(MGI Ref ID J:134371)
- 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 phenotype
- dwarfism
(MGI Ref ID J:134371)
- increased lean body mass
(MGI Ref ID J:134371)
- significant increase in percentage of lean mass at 5-6 months as compared to wildtype
- postnatal slow weight gain
(MGI Ref ID J:134371)
- after weaning weight gain is slower than wildtype
- homozygotes do not exhibit juvenile growth spurt
- adipose tissue phenotype
- decreased percent body fat
(MGI Ref ID J:134371)
- significant decrease in percentage of body fat at 5-6 months as compared to wildtype
- craniofacial phenotype
- short snout
(MGI Ref ID J:134371)
- snub nose is visible by four months of age
- homeostasis/metabolism phenotype
- decreased blood urea nitrogen level
(MGI Ref ID J:134371)
- decreased circulating estradiol level
(MGI Ref ID J:134371)
- 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
(MGI Ref ID J:134371)
- 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
(MGI Ref ID J:134371)
- 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
(MGI Ref ID J:134371)
- vision/eye phenotype
- exophthalmos
(MGI Ref ID J:134371)
- protuberant eyes are observed by four months of age
- skeleton phenotype
- abnormal bone mineralization
(MGI Ref ID J:134371)
- bone mineral content is reduced in comparison to wildtype, however density is not reduced
- reproductive system phenotype
- abnormal ovulation
(MGI Ref ID J:134371)
- 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
- abnormal spermatid morphology
(MGI Ref ID J:134371)
- number of spermatids is reduced in 4 month old mice, but not in 6 week old mice
- abnormal vaginal opening
(MGI Ref ID J:134371)
- 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
(MGI Ref ID J:134371)
- corpora lutea is absent in 6 week old and 4 month old females, however, pre-antral, antral and Graffian follicles appear normal
- female infertility
(MGI Ref ID J:134371)
- female homozygote matings to wildtype fail to produce offspring
- male germ cell apoptosis
(MGI Ref ID J:134371)
- atrophy is observed in spermatogonia, Leydig and Serotoli cells at 4 months
- reduced male fertility
(MGI Ref ID J:134371)
- occasionally homozygote males crossed to heterozygote or wildtype females produce offspring
- nervous system phenotype
- small pituitary gland
(MGI Ref ID J:134371)
- proportion of pituitary gland area to whole brain area is reduced as compared to wildtype at 4 weeks, however, size difference disappears by adulthood
|
Gene & Allele Details
| Allele Symbol |
Ddr2slie |
| Allele Name |
smallie |
| Strain of Origin | BKSChpLt.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. |
Colony Maintenance
| Breeding & Husbandry | When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes are infertile. |
| Diet Information |
LabDiet® 5K52/5K67
|
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
References
Selected Reference(s)
Kano K; de Evsikova CM; 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]
Price and Supply Information
| Strain Name: |
BKS(HRS)-Ddr2slie/JngJ |
| Stock Number: |
008172 |
This strain is currently Under Development for Distribution Colony.
To register your interest in this strain go to the Strain Interest Form.
Estimated Available for Sale Date:
Please note: Estimated available for sale dates are provided to keep
customers better informed on strains under development. Please note that our
Colony Managers routinely monitor the target date and edit it based on
breeding performance and other factors. The length of time it takes to make a
new strain available for sale depends on genotype, age, number of animals sent
by the Donating Investigator, breeding performance, additional strain
development (backcrossing, making homozygous), and anticipated demand for the
strain/interest registered.
View All Strains Under Development
Supply Details
| Standard Supply | Under Development for Distribution Colony |
| Supply Notes |
This strain is included in the Mouse Mutant Resource collection.
|
|---|
| Licensing | See General Terms and Conditions below
|
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® 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
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Therefore, we
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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
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