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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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 Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N45 Appearance
black, toe defects
Related Genotype: a Hoxd13spdh/a Hoxd13spdh
black, unaffected
Related Genotype: a Hoxd13spdh/a + or a ?/a +Description
The spdh/spdh mutants have a normal body size but exhibit shortened, fused, and duplicated digits in both front and rear feet. Ossification is severely delayed and ossification centers are mis-patterned in developing metacarpal, metatarsal and phalangeal bones. Joint formation is severely disrupted in the phalanges, with forelimbs more affected compared to the hindlimbs. Reduced rates of proliferation and differentiation of mutant chondrocytes contribute to altered cartiledge/bone morphology. Although expression patterns of Hoxd13/11/12 and Hoxa13 do not seem to be disrupted, their function does seem to be disrupted, indicating HOX protein interactions are altered as a result of the spdh mutation. Additionally, the spdh mutant phenotype is much more severe than mutants carrying a targeted disruption of the spdh gene, supporting a dominant-negative effect. The preputial glands of the genital tract are absent in both male and female spdhmutants (Albrecht et al., 2002; Johnson et al., 1998; Dolle et al., 1993).Development
The Hoxd13spdhmice were discovered in the B6C3Fe-a/a-Csflop colony at the Mouse Mutant Resource of The Jackson Laboratory in 1994. Malformations of the foot were initially noted with an inheritance pattern consistent with an autosomal recessive mutation. Through linkage and PCR typing analyses it was determined that the mutation lies on chromosome 2 and originated within a chromosomal region from C3FeLe.B6-a. Hoxd13spdhmice are maintained on the B6C3Fe-a/a background by outcrossing a homozygous female to B6C3FeF1 a/a (stock # 001022) each generation, then intercrossing the obligate heterozygous offspring. Csflop has been bred out of the strain. The Hoxd13spdh/Hoxd13spdh males are infertile. (Johnson et al., 1998; Albrecht et al., 2002). Embryos for this strain were frozen as a product of breeding B6C3FeF1-a/a females with heterozygous males at N44F1.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Synpolydactyly 1; SPD1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Hoxd13spdh/Hoxd13+
B6C3Fe a/a-Hoxd13spdh/J
- limbs/digits/tail phenotype
- ectrodactyly (MGI Ref ID J:71694)
- a subtle reduction in the length of the second phalanges in digits II and V is scored in approximately 30% of the cases
Hoxd13spdh/Hoxd13spdh
B6C3Fe a/a-Hoxd13spdh/J
- limbs/digits/tail phenotype
- *normal* limbs/digits/tail phenotype (MGI Ref ID J:71694)
- no difference in caspase 3 staining of limbs is detected, indicating that increased apoptosis is not causative
- abnormal digit development (MGI Ref ID J:71694)
- abnormal digit morphology (MGI Ref ID J:47974)
- brachydactyly (MGI Ref ID J:47974)
- in both front and rear feet
- ectrodactyly (MGI Ref ID J:71694)
- both fore- and hindpaws have markedly shortened digits with absence of the second phalanges and an abnormal aspect of the digits
- polydactyly (MGI Ref ID J:47974)
- in both front and rear feet
- sometimes found in hindpaws but with incomplete penetrance
- syndactyly (MGI Ref ID J:47974)
- in both front and rear feet
- abnormal skeleton extremities morphology (MGI Ref ID J:47974)
- abnormal carpal bone morphology (MGI Ref ID J:47974)
- reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
- abnormal metatarsal bone morphology (MGI Ref ID J:71694)
- metatarsal bones are ill-shaped
- decreased metatarsal bone number (MGI Ref ID J:47974)
- reduction in number of metatarsal bones in all four feet
- short metatarsal bones (MGI Ref ID J:47974)
- reduction in size of metatarsal bones in all four feet
- abnormal tarsal bone morphology (MGI Ref ID J:47974)
- reduction in size and number of tarsal bones in all four feet
- decreased metacarpal bone number (MGI Ref ID J:47974)
- reduction in number of metacarpal bones in all four feet
- short metacarpal bones (MGI Ref ID J:47974)
- reduction in size of metacarpal bones in all four feet
- reproductive system phenotype
- abnormal seminal vesicle morphology (MGI Ref ID J:47974)
- seminal vesicles exhibit decreased folding
- however, testes, epididymis and spermatogenesis appeared normal
- absent preputial gland (MGI Ref ID J:47974)
- absent preputial glands in both sexes
- male infertility (MGI Ref ID J:47974)
- endocrine/exocrine gland phenotype
- abnormal seminal vesicle morphology (MGI Ref ID J:47974)
- seminal vesicles exhibit decreased folding
- however, testes, epididymis and spermatogenesis appeared normal
- absent preputial gland (MGI Ref ID J:47974)
- absent preputial glands in both sexes
- skeleton phenotype
- abnormal osteogenesis (MGI Ref ID J:47974)
- ossification of metacarpals, metatarsals and some phalanges was not visible at P0.5 and ossification centers were unpatterned at P6
- delayed endochondral bone ossification (MGI Ref ID J:71694)
- developing forelimbs at embryonic day 12.5 have much less collagen type II expression than in wildtype and at 8 days after birth ossification centers are absent from the paws
- abnormal skeleton extremities morphology (MGI Ref ID J:47974)
- abnormal carpal bone morphology (MGI Ref ID J:47974)
- reduction in size and number of carpal bones in all four feet, however long bones of the limb appear normal
- abnormal metatarsal bone morphology (MGI Ref ID J:71694)
- metatarsal bones are ill-shaped
- decreased metatarsal bone number (MGI Ref ID J:47974)
- reduction in number of metatarsal bones in all four feet
- short metatarsal bones (MGI Ref ID J:47974)
- reduction in size of metatarsal bones in all four feet
- abnormal tarsal bone morphology (MGI Ref ID J:47974)
- reduction in size and number of tarsal bones in all four feet
- decreased metacarpal bone number (MGI Ref ID J:47974)
- reduction in number of metacarpal bones in all four feet
- short metacarpal bones (MGI Ref ID J:47974)
- reduction in size of metacarpal bones in all four feet
- renal/urinary system phenotype
- absent preputial gland (MGI Ref ID J:47974)
- absent preputial glands in both sexes
This mouse can be used to support research in many areas including:Hoxd13spdh related
Developmental Biology Research
Limb Patterning Defects
Skeletal Defects
Mouse/Human Gene Homologs
synpolydactyly
Reproductive Biology Research
Fertility Defects
males only
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Hoxd13spdh | ||
|---|---|---|---|
| Allele Name | synpolydactyly homolog | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | B6C3Fe a/a-Csf1op/J | ||
| Gene Symbol and Name | Hoxd13, homeo box D13 | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | BDE; BDSD; HOX4I; Hox-4.8; SPD; homeo box-4 cluster, gene 8; spdh; | ||
| Molecular Note | 21 bp in-frame duplication within a polyalanine-encoding region at the 5'-end of the Hoxd13 coding sequence. This duplication expands the stretch of alanines from 15 to 22, the same type of expansion that occurs in human synpolydactyly mutations. | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Albrecht AN; Kornak U; Boddrich A; Suring K; Robinson PN; Stiege AC; Lurz R; Stricker S; Wanker EE; Mundlos S. 2004. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 13(20):2351-9. [PubMed: 15333588] [MGI Ref ID J:93587]
Bruneau S; Johnson KR; Yamamoto M; Kuroiwa A; Duboule D. 2001. The mouse hoxd13(spdh) mutation, a polyalanine expansion similar to human type ii synpolydactyly (spd), disrupts the function but not the expression of other hoxd genes. Dev Biol 237(2):345-53. [PubMed: 11543619] [MGI Ref ID J:71694]
Johnson KR; Sweet HO; Donahue LR; Ward-Bailey P; Bronson RT; Davisson MT. 1998. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 7(6):1033-8. [PubMed: 9580668] [MGI Ref ID J:47974]
Spitz F; Gonzalez F; Peichel C; Vogt TF; Duboule D; Zakany J. 2001. Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations. Genes Dev 15(17):2209-14. [PubMed: 11544178] [MGI Ref ID J:71405]
Hoxd13spdh relatedAlbrecht AN; Kornak U; Boddrich A; Suring K; Robinson PN; Stiege AC; Lurz R; Stricker S; Wanker EE; Mundlos S. 2004. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 13(20):2351-9. [PubMed: 15333588] [MGI Ref ID J:93587]
Albrecht AN; Schwabe GC; Stricker S; Boddrich A; Wanker EE; Mundlos S. 2002. The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. Mech Dev 112(1-2):53-67. [PubMed: 11850178] [MGI Ref ID J:75699]
Bruneau S; Johnson KR; Yamamoto M; Kuroiwa A; Duboule D. 2001. The mouse hoxd13(spdh) mutation, a polyalanine expansion similar to human type ii synpolydactyly (spd), disrupts the function but not the expression of other hoxd genes. Dev Biol 237(2):345-53. [PubMed: 11543619] [MGI Ref ID J:71694]
Johnson KR; Sweet HO; Donahue LR; Ward-Bailey P; Bronson RT; Davisson MT. 1998. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 7(6):1033-8. [PubMed: 9580668] [MGI Ref ID J:47974]
Kuss P; Villavicencio-Lorini P; Witte F; Klose J; Albrecht AN; Seemann P; Hecht J; Mundlos S. 2009. Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest 119(1):146-56. [PubMed: 19075394] [MGI Ref ID J:144711]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
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See Terms of Use tab for General Terms and Conditions
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.Ordering and Purchasing Information
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