Strain Name:

B6.129S7-Atxn1ltm2.1Hzo/J

Stock Number:

017942

Order this mouse

Availability:

Cryopreserved - Ready for recovery

Use Restrictions Apply, see Terms of Use
Approximatley 50% of homozygous Atxn1l (ataxin 1-like) KO mice die before postnatal day 21. Hydrocephalus, omphalocele, and lung alveolar deficits are observed. This strain may be helpful in studies related to extracellular matrix remodeling and lung alveolarization.

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 Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
GenerationN?pN1
Generation Definitions
 
Donating Investigator Huda Zoghbi,   Baylor College of Medicine

Description
Homozygous Atxn1l (ataxin 1-like) knockout mice are smaller than their wildtype littermates. Approximatley 50% are reported to die before postnatal day 21 on this C57BL/6J genetic background. About 31% of the surviving animals develop hydrocephalus. Symptomatic homozygotes develop a dome-shaped head, kyphosis, lethargy and emaciation sometime between 1 and 4 weeks after birth. Omphalocele (an umbilical hernia/abdominal wall closure defect) is observed in a small percentage of these mice. Lung alveolarization defects coincidental with a destabilization of transcriptional repressor Cic (capicua homolog (Drosophila)) and overexpression of matrix metalloproteinase (MMP) proteins are also seen. Western blots demonstrate an absence of ATXN1L expression in homozygous embryos. Heterozygotes develop hydrocephalus at a very low frequency (<1%). Hydrocephalus, omphalocele, and lung alveolar deficits are more penetrant and severe when combined with an Atxn1 (ataxin 1) knockout, suggesting the two genes are functionally redundant. This strain may be helpful in studies of extracellular matrix remodeling and lung alveolarization.

Development
A loxP site was introduced to intron 3 and a loxP-flanked TK-neomycin resistance cassette was placed in exon 4 following the Atxn1l open reading frame. AB2.2 129S7/SvEvBrd-Hprt1+-derived embryonic stem (ES) cells were used to create the mutation. Transient expression of a cre plasmid excised the floxed segments, removing both the Atxn1l open reading frame and neomycin cassette. This strain was backcrossed 11 times to C57BL/6J by the donating laboratory.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Atxn1ltm2.1Hzo/Atxn1l+

        B6.129S7-Atxn1ltm2.1Hzo
  • nervous system phenotype
  • hydroencephaly
    • develop hydrocephalus at a very low frequency (less than 1%)   (MGI Ref ID J:178303)

Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo

        B6.129S7-Atxn1ltm2.1Hzo
  • mortality/aging
  • partial postnatal lethality
    • about 50% of mice die before P21   (MGI Ref ID J:178303)
  • nervous system phenotype
  • hydroencephaly
    • about 30% of surviving mice develop hydrocephalus   (MGI Ref ID J:178303)
  • behavior/neurological phenotype
  • lethargy
    • develops in symptomatic mice between 1 and 4 weeks of age   (MGI Ref ID J:178303)
  • growth/size/body phenotype
  • decreased body size   (MGI Ref ID J:178303)
    • cachexia
      • emaciation develops in symptomatic mice between 1 and 4 weeks of age   (MGI Ref ID J:178303)
  • skeleton phenotype
  • domed cranium
    • develops in symptomatic mice between 1 and 4 weeks of age   (MGI Ref ID J:178303)
  • kyphosis
    • develops in symptomatic mice between 1 and 4 weeks of age   (MGI Ref ID J:178303)
  • craniofacial phenotype
  • domed cranium
    • develops in symptomatic mice between 1 and 4 weeks of age   (MGI Ref ID J:178303)

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo

        involves: 129S7/SvEvBrd * C57BL/6J
  • mortality/aging
  • partial neonatal lethality
    • less than 20% of pups die within 3 h of birth   (MGI Ref ID J:178303)
  • homeostasis/metabolism phenotype
  • cyanosis
    • less than 20% of pups of cyanotic and die within 3 h of birth   (MGI Ref ID J:178303)
  • respiratory system phenotype
  • abnormal pulmonary alveolar sac morphology
    • air space enlargement in 65% of mice at the late alveolar stage (P17-P23)   (MGI Ref ID J:178303)
  • abnormal pulmonary alveolus morphology
    • decrease in the area occupied by elastic fibrils within the alveolar walls in symptomatic mice at 7 to 9 months of age   (MGI Ref ID J:178303)
  • growth/size/body phenotype
  • omphalocele
    • in 1 of 24 embryos   (MGI Ref ID J:178303)
  • nervous system phenotype
  • enlarged lateral ventricles
    • at birth in 1 of 9 pups   (MGI Ref ID J:178303)
  • enlarged third ventricle
    • at birth in 1 of 9 pups   (MGI Ref ID J:178303)
View Research Applications

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

Cell Biology Research
Defects in Extracellular Matrix Molecules

Developmental Biology Research
Craniofacial and Palate Defects
      hydrocephaly: severely abnormal skull
Defects in Extracellular Matrix Molecules
Postnatal Lethality
      Homozygous
Skeletal Defects
      hydrocephaly

Internal/Organ Research
Lung Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Atxn1ltm2.1Hzo
Allele Name targeted mutation 2.1, Huda Y Zoghbi
Allele Type Targeted (knock-out)
Mutation Made By Huda Zoghbi,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt
Gene Symbol and Name Atxn1l, ataxin 1-like
Chromosome 8
Gene Common Name(s) BOAT; BOAT1; C330011L24Rik; D8Ertd587e; DNA segment, Chr 8, ERATO Doi 587, expressed; ENSMUSG00000069895; RGD1561758; RIKEN cDNA C330011L24 gene; predicted gene, ENSMUSG00000069895;
Molecular Note A loxP site was inserted upstream of the open reading frame and a floxed neo cassette was inserted downstream of the open reading frame via homologous recombination. Cre mediated recombination removed the open reading frame and the neo cassette.

Genotyping

Genotyping Information

Genotyping Protocols

Atxn1ltm2.1Hzo,

Separated MCA


Atxn1ltm2.1Hzo, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Lee Y; Fryer JD; Kang H; Crespo-Barreto J; Bowman AB; Gao Y; Kahle JJ; Hong JS; Kheradmand F; Orr HT; Finegold MJ; Zoghbi HY. 2011. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell 21(4):746-57. [PubMed: 22014525]  [MGI Ref ID J:178303]

Additional References

Atxn1ltm2.1Hzo related

Kahle JJ; Souroullas GP; Yu P; Zohren F; Lee Y; Shaw CA; Zoghbi HY; Goodell MA. 2013. Ataxin1L Is a Regulator of HSC Function Highlighting the Utility of Cross-Tissue Comparisons for Gene Discovery. PLoS Genet 9(3):e1003359. [PubMed: 23555280]  [MGI Ref ID J:195268]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryHeterozygotes are viable and fertile, but 50% of homozygous mice are reported to die before postnatal day 21 (P21).

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2085.00
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2710.50
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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.


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 Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

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.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.5)