Overview

These contactin 1 mutant mice are characterized by reduced body weight, a failure to thrive, locomotor abnormalities, and a lifespan of 2-3 weeks.

Genetic overview

Genetic Background	Generation

Cntn1^m1J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Cntn1	contactin 1

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Research Applications

Neurobiology Research
Developmental 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 the Cntn1^m1J mutation are smaller than their wild-type littermates by 4 to 7 days of age, and appear emaciated by 2 weeks of age. They are ataxic, most die by 18 to 20 days of age, and all die by 30 days of age. Histological assessment found normal neuromuscular junctions, normal Purkinje cell dendritic arborization, and no morphological anomalies in brain. The twitch and titanic force generated by excised extensor digitorum longus muscles was found to be normal when normalized for the muscle weight of these smaller mutants. Necropsies showed pale livers, little food in the stomachs, and gas bubbles in the intestines.

Development

The Cntn1^m1J mutation arose spontaneously at The Jackson Laboratory on the BALB/cJ inbred in 1979. It was maintained by sibling inbreeding for several generations then it was maintained by breeding the host of a homozygous ovarian transplant to a BALB/cByJ male and intercrossing the obligate heterozygous offspring. This backcross-intercross breeding scheme was maintained for many years, reaching generation N4 in 1985, N10 in 1987, N17 in 1993, and N19 in 1993. In 1999 embryos were generated for cryopreservation from C57BL/6J females bred with heterozygous males at generation N21. When these embryos were later cryorecovered they were intercrossed and then the line was backcrossed once to BALB/cByJ before being maintained by breeding a host of a homozygous ovarian transplant with a male sibling of the donor then intercrossing the obligate heterozygotes. In 2011 this strain reached generation N1F19. Prior to cryopreservation a DNA sample of the BALB/cByJ background at generation N21 was preserved in the DNA Resource and is available as stock No.017747.

Control Suggestions

Heterozygote

Additional Information

Considerations for Choosing Controls

Selected References

Davisson MT; Bronson RT; Tadenev AL; Motley WW; Krishnaswamy A; Seburn KL; Burgess RW. 2011. A spontaneous mutation in contactin 1 in the mouse. PLoS One 6(12):e29538PubMed: 22242131 MGI: J:178817

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Genetics

Cntn1^m1J

Allele Symbol: Cntn1^m1J

Allele Name	mutation 1, Jackson
Allele Type	Spontaneous
Allele Synonym(s)	mutation 1, Jackson; Cntn1^m1J
Gene Symbol and Name	Cntn1, contactin 1
Gene Synonym(s)	F3cam; F3; F3cam; GP135; MYPCN; F3 neuronal cell adhesion molecule; CNTN; AW495098; expressed sequence AW495098; usl; unsteady small lethal; usl
Strain of Origin	BALB/cJ
Chromosome	15
Molecular Note	A spontaneous G to A point mutation at 92,081,395 of Chr 15 (build 37) results in a premature stop codon at protein residue 364 and western blot of brain or spinal cord extracts from homozygotes failed to identify this protein and efforts to amplify segments of this gene from cDNA failed.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Compton-North congenital myopathy

Research Areas By Genotype

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

Genotype: Cntn1^m1J related

Neurobiology Research
- Ataxia (Movement) Defects
Developmental Biology Research
- Postnatal Lethality
  - Homozygous

Mammalian Phenotype Terms by Genotype

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

Genotype: Cntn1^m1J/Cntn1^m1J
B6;C-Cntn1/GrsrJ

behavior/neurological phenotype

abnormal motor coordination/balance
- locomotor abnormalities evident by 2 weeks of age includes ataxia

ataxia

growth/size/body region phenotype

decreased body weight
- homozygotes are noticably smaller by 4 to 7 days of age and appear emaciated by 2 weeks of age
- necropsy at 2 and 3 weeks of age reveals a paucity of food in the stomach, pale livers, gas bubbles in the intestines, and fat deposits in the liver characteristic of fat mobilization in starvation

mammalian phenotype

muscle phenotype
- Normal - neuromuscular junctions are normal, muscle weight to body weight ratio is normal, and the twitch and tetanic force generated by the muscles is normal when normalized for muscle weight of these smaller mutants

nervous system phenotype
- Normal - no morphological abnormalities detected in the brain, Purkinje cells have normal arborization, and neuromuscular junctions have normal morphology

vision/eye phenotype
- Normal - retinal anatomy is normal

mortality/aging

lethality at weaning, complete penetrance
- all homozygotes die by 30 days of age

preweaning lethality, incomplete penetrance
- 80% of homozygotes die by 18 to 20 days of age

References

Davisson MT; Bronson RT; Tadenev AL; Motley WW; Krishnaswamy A; Seburn KL; Burgess RW. 2011. A spontaneous mutation in contactin 1 in the mouse. PLoS One 6(12):e29538PubMed: 22242131 MGI: J:178817

Additional - Cntn1^m1J related

Technical Support

Contact Technical Support

Genotyping Protocols
- Pyrosequencing:** Cntn1*W364STOP
- Sanger sequencing:Cntn1^m1J-SEQ
- Genotyping resources and troubleshooting
Citation
When using the B6;C-Cntn1^m1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #002717 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	Genotype	Price
	Heterozygous or wildtype for Cntn1<m1J>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Cntn1m1J

Allele Symbol: Cntn1m1J

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

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

Genotype: Cntn1m1J related

Mammalian Phenotype Terms by Genotype

Genotype: Cntn1m1J/Cntn1m1JB6;C-Cntn1/GrsrJ

behavior/neurological phenotype

growth/size/body region phenotype

mammalian phenotype

mortality/aging

References

Additional - Cntn1m1J 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

Cntn1^m1J

Allele Symbol: Cntn1^m1J

Genotype: Cntn1^m1J related

Genotype: Cntn1^m1J/Cntn1^m1J
B6;C-Cntn1/GrsrJ

Additional - Cntn1^m1J related