Overview

Also Known As:small with kinky tail

This spontaneous deletion includes the chondroitin N-acetygalactosaminyltransferase domain of chondroitin sulphatase 1. Although immunohistochemistry detects CHSY1, this deletion causes a loss of function inhibiting production of chondroitin sulfate, which results in specific decreases in macrophage and neutrophil populations, tail kinks, inflammatory infiltrates in the kidney, retinal degeneration, and hippocampal neurodegeneration with age. Mutations in human CHSY1 have been shown to cause Temtamy preaxial brachydactyly syndrome (TPBS).

Genetic overview

Genetic Background	Generation

Chsy1^skt

Allele Type	Gene Symbol	Gene Name
Spontaneous (Null/Knockout, Null/Knockout)	skt	small with kinky tail

Chsy1^skt

Allele Type	Gene Symbol	Gene Name
Spontaneous (Null/Knockout, Null/Knockout)	skt	small with kinky tail

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

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Research Applications

Developmental Biology Research
Neurobiology Research
Sensorineural Research
Cell Biology Research

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Base Price

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This spontaneous 27 kb deletion includes the chondroitin N-acetygalactosaminyltransferase domain of chondroitin sulphatase 1 and thus disrupts production of the glycosaminoglycan chondroitin sulfate, which is normally present in extracellular matrix and cell surface proteoglycans. Immunohistochemistry using a polyclonal antibody does detect CHSY1 protein in homozygotes. The phenotypic traits of Chsy1^skt homozygotes include smaller overall body size, kinked tail, retinal degeneration, inflammatory infiltrates in the kidney, and the development of a hunched posture, hair loss, and hippocampal neurodegeneration with age. Homozygotes are reported to have an average lifespan of only 20 months compared with 27 months for heterozygotes. There is a significant decrease in the number of macrophages in both the bone marrow and spleen and a significant decrease in the number of neutrophils in the bone marrow but not the spleen. The frequencies of lymphocytes and monocytic cells in bone marrow and spleen are reportedly normal.

CHSY1 is found in the retinal photoreceptor inner segments and retinal pigment epithelium, and immunohistochemistry shows a normal expression pattern in Chsy1^skt homozygotes, but the chondroitin sulfate glycosaminoglycans that are normally found in the retinal interphotoreceptor matrix and apical surface of the retinal pigment epithelium are absent. By 4 weeks of age the retinal outer nuclear layer of homozygotes shows significant TUNEL staining, increased retinal stress, and increased invasion of activated and transitioning microglia in the outer plexiform layer and the outer nuclear layer. This persists in 8-week-old homozygotes with microglia found in the outer nuclear layer and retinal pigment epithelium. Histology at 8 weeks of age shows ectopic synaptic interactions between photoreceptor cells and bipolar cells, severe disruption of the columnar structures and outer segment tips of the photoreceptor outer segment, and decreased thickness of the outer nuclear layer. Consistent with this photoreceptor cell degeneration, scotopic ERG shows decreased a and b waves at 8 weeks of age. CHSY1 is also expressed in CA1, CA2, and CA3 of the hippocampus, where there is also a decrease in chondroitin sulfate glycosaminoglycans. Assessment at 8 weeks of age and 1.5 years of age found increased numbers of microglia and an increased percentage of microglia that are activated in the CA1, CA2, and CA3 regions of the hippocampus. Hippocampal neurodegeneration is found at 1.5 years of age. (Macke et al., 2020)

Development

The mutation small with kinky tail (skt) arose spontaneously in approximately 1985 in LT.MA-Glo^b t⁶, a stock constructed by Dr. J. Nadeau at The Jackson Laboratory. The first small, abnormal tailed male was mated to a B6C3F1-a/a F1 female. Their offspring were bred together and the stock was subsequently maintained segregating by sibling breeding heterozygotes with homozygotes. In 1989, when the strain was at F13 and beyond, heterozygous males were bred with homozygous females and homozygous females were bred with heterozygous males to generate embryos for cryopreservation.

Selected References

Lane PW. 1988. Subtle gray (sut); small with kinky tail (skt) Mouse News Lett 80:165MGI: J:14274

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Genetics

Chsy1^skt

Allele Symbol: Chsy1^skt

Allele Name	small with kinky tail
Allele Type	Spontaneous (Null/Knockout, Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	skt, small with kinky tail Chsy1, chondroitin sulfate synthase 1
Gene Synonym(s)
Strain of Origin	LT.MA
Chromosome	7
Molecular Note	This spontaneous 27-kb deletion begins in the third exon and extends into the intergenic sequence, thus including the chondroitin N-acetylgalactosaminyltransferase (CHGN) domain and creating a loss of function mutation.

Chsy1^skt

Allele Symbol: Chsy1^skt

Allele Name	small with kinky tail
Allele Type	Spontaneous (Null/Knockout, Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	skt, small with kinky tail Chsy1, chondroitin sulfate synthase 1
Gene Synonym(s)
Strain of Origin	LT.MA
Chromosome	7
Molecular Note	This spontaneous 27-kb deletion begins in the third exon and extends into the intergenic sequence, thus including the chondroitin N-acetylgalactosaminyltransferase (CHGN) domain and creating a loss of function mutation.

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Chsy1^skt related

Developmental Biology Research
- Skeletal Defects
- Growth Defects

Neurobiology Research
- Neurodegeneration
Sensorineural Research
- Retinal Degeneration
Cell Biology Research
- Defects in Extracellular Matrix Molecules
Developmental Biology Research
- Defects in Extracellular Matrix Molecules

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Chsy1^skt/Chsy1^skt Pde6b⁺/Pde6b⁺
mixed

behavior/neurological phenotype

hunched posture
- develops in older mice

integument phenotype

premature hair loss
- found in older mice

limbs/digits/tail phenotype

kinked tail

mortality/aging

premature death
- average lifespan of homozygotes is 20 months instead of 27 months

nervous system phenotype

abnormal photoreceptor outer segment morphology
- rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures

disorganized photoreceptor outer segment

hippocampal neuron degeneration
- at 1.5 years of age an increasing number of empty spaces are found surrounding cells in the CA1, CA2, and CA3 and a loss of wolframin ER transmembrane glycoprotein stained cells

microgliosis
- increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

neurodegeneration

photoreceptor outer segment degeneration

retinal photoreceptor degeneration

cellular phenotype

abnormal extracellular matrix morphology
- this disruption in the synthesis of chondroitin sulfate glycosaminoglycans is evident in retinal interphotoreceptor matrix and hippocampus

renal/urinary system phenotype

kidney inflammation
- CD45+ inflammatory cells are found

vision/eye phenotype

abnormal photoreceptor outer segment morphology
- rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures

abnormal retinal outer nuclear layer morphology
- absent chondroitin sulfate proteoglycans, ectopic synaptic interactions between photoreceptor and bipolar cells, increased apoptosis and progressive photoreceptor cell degeneration

abnormal rod electrophysiology
- scotopic ERG at 8 weeks of age shows decreased a and b wave amplitudes

decreased a wave amplitude

decreased b wave amplitude

disorganized photoreceptor outer segment

photoreceptor outer segment degeneration

retinal outer nuclear layer degeneration

retinal photoreceptor degeneration

thin retinal outer nuclear layer

growth/size/body region phenotype

decreased body size

hematopoietic system phenotype

decreased macrophage cell number
- diminished numbers of macrophages in the bone marrow and spleen

decreased neutrophil cell number
- significant reduction in neutrophils in the bone marrow but not the spleen

microgliosis
- increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

immune system phenotype

decreased macrophage cell number
- diminished numbers of macrophages in the bone marrow and spleen

decreased neutrophil cell number
- significant reduction in neutrophils in the bone marrow but not the spleen

kidney inflammation
- CD45+ inflammatory cells are found

microgliosis
- increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

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

Genotype: Chsy1^skt/Chsy1^skt
STOCK a Chsy1/J

growth/size/body region phenotype

proportional dwarf
- homozygotes are smaller than normal with normal proportions

limbs/digits/tail phenotype

kinked tail
- only the caudal vertebrae are affected

References

Lane PW. 1988. Subtle gray (sut); small with kinky tail (skt) Mouse News Lett 80:165MGI: J:14274

Additional References

Macke EL; Henningsen E; Jessen E; Zumwalde NA; Landowski M; Western DE; Lee WH; Liu C; Gruenke NP; Doebley AL; Miller S; Pattnaik B; Ikeda S; Gumperz JE; Ikeda A. 2020. Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice. Genetics 214(1):121-134PubMed: 31754016 MGI: J:286529

Additional - a related

Additional - Chsy1^skt related

Technical Support

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Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the small with kinky tail mouse strain in a publication, please cite the originating article(s) and include JAX stock #001433 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

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International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for a, Heterozygous or Homozygous for skt,

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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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Also Known As:small with kinky tail

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Chsy1skt

Allele Symbol: Chsy1skt

Chsy1skt

Allele Symbol: Chsy1skt

a

Allele Symbol: a

Disease Terms

Research Areas By Phenotype

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

Genotype: Chsy1skt related

Mammalian Phenotype Terms by Genotype

Genotype: Chsy1skt/Chsy1skt Pde6b+/Pde6b+mixed

behavior/neurological phenotype

integument phenotype

limbs/digits/tail phenotype

mortality/aging

nervous system phenotype

cellular phenotype

renal/urinary system phenotype

vision/eye phenotype

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

Genotype: Chsy1skt/Chsy1sktSTOCK a Chsy1/J

growth/size/body region phenotype

limbs/digits/tail phenotype

References

Additional References

Additional - a related

Additional - Chsy1skt related

Genotyping Protocols

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

Chsy1^skt

Allele Symbol: Chsy1^skt

Chsy1^skt

Allele Symbol: Chsy1^skt

Genotype: Chsy1^skt related

Genotype: Chsy1^skt/Chsy1^skt Pde6b⁺/Pde6b⁺
mixed

Genotype: Chsy1^skt/Chsy1^skt
STOCK a Chsy1/J

Additional - Chsy1^skt related