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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- 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 Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N?+2F4p + N1p (09-NOV-05)
Generation DefinitionsDonating Investigator Dr. T. R. Kumar, University of Kansas Description
Activin receptor IIA deficient mice are viable. Homozygous males are fertile, while homozygous females are infertile. Follicle-stimulating hormone levels are reduced in mutant mice. Some skeletal and facial abnormalities, including micrognathia, cleft palate and defects in Meckel's cartilage are observed. These defects are reminiscent of Pierre-Robin syndrome in humans. Severe defects occasionally result in the perinatal or in utero death of a small number of homozygous mutant embryos.Development
A targeting vector deleted a 0.23 kb of the sequence of exon 1 of the ActRcII gene. It was replaced by a PGK-hprt cassette. The strain originated on a B6,129 background.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| Considerations for Choosing Controls | ||
Related Strains
Facebase: models
View Facebase: models (58 strains)
Phenotype
Phenotype Information
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Pierre Robin Syndrome
assigned by genotype
Acvr2atm1Zuk/Acvr2atm1Zuk
either: 129 or (involves: 129S7/SvEvBrd * C57BL/6)
- mortality/aging
- complete neonatal lethality
- 22% (mice exhibiting craniofacial defects) died within minutes of birth (MGI Ref ID J:23924)
- craniofacial phenotype
- abnormal craniofacial bone morphology
- mice displaying facial abnormalities died within minutes of birth (MGI Ref ID J:23924)
- absent incisors
- secondary to the hypoplastic mandibles (MGI Ref ID J:23924)
- cleft palate
- may be secondary to the hypoplastic mandibles (MGI Ref ID J:23924)
- endocrine/exocrine gland phenotype
- *normal* endocrine/exocrine gland phenotype
- normal luteinizing hormone (LH) levels in male mice normal lutenizing hormone (LH) levels in male mice (MGI Ref ID J:23924)
- homeostasis/metabolism phenotype
- suppressed circulating follicle stimulating hormone level
- decrease FSH levels in both males and females (MGI Ref ID J:23924)
- reproductive system phenotype
- *normal* reproductive system phenotype
- normal stages of spermatogenesis (MGI Ref ID J:23924)
- abnormal estrous cycle (MGI Ref ID J:23924)
- abnormal ovary morphology (MGI Ref ID J:23924)
- abnormal seminiferous tubule morphology
- reduction in tubule volume (MGI Ref ID J:23924)
- azoospermia
- epididymis devoid of spermatozoa at 42 days of age (MGI Ref ID J:23924)
- delayed male fertility
- female infertility (MGI Ref ID J:23924)
- small testis
- exhibited from 21 d of age through adulthoods (MGI Ref ID J:23924)
- thin uterus (MGI Ref ID J:23924)
- skeleton phenotype
- abnormal craniofacial bone morphology
- mice displaying facial abnormalities died within minutes of birth (MGI Ref ID J:23924)
- vision/eye phenotype
- abnormal eyelid morphology
- 11% of the mice exhibited closed eyelids (MGI Ref ID J:23924)
- digestive/alimentary phenotype
- cleft palate
- may be secondary to the hypoplastic mandibles (MGI Ref ID J:23924)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Acvr2atm1Zuk/Acvr2atm1Zuk
involves: 129S7/SvEvBrd
- endocrine/exocrine gland phenotype
- abnormal Sertoli cell morphology
- 39% decrease in the number of sertoli cells relative to wild-type (MGI Ref ID J:71932)
- decreased testis weight
- 60% reduction in weight relative to wild-type (MGI Ref ID J:71932)
- reproductive system phenotype
- abnormal Sertoli cell morphology
- 39% decrease in the number of sertoli cells relative to wild-type (MGI Ref ID J:71932)
- abnormal spermatid morphology
- 60% reduction in round spermatids (MGI Ref ID J:71932)
- abnormal spermatogonia morphology
- 46% reduction in spermatogonia (MGI Ref ID J:71932)
- decreased male germ cell number
- decline in germ cell numbers that becomes more marked as spermatogenesis progresses; 46% reduction in A and I spermatogonia and a 60% reduction in round spermatids (MGI Ref ID J:71932)
- decreased testis weight
- 60% reduction in weight relative to wild-type (MGI Ref ID J:71932)
This mouse can be used to support research in many areas including:Acvr2atm1Zuk related
Reproductive Biology Research
Endocrine Deficiencies Affecting Gonads
Fertility Defects
females only
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Acvr2atm1Zuk | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Martin M Matzuk | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Acvr2-; actRcIIm1; | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt | ||
| ES Cell Line Name | AB2.1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt | ||
| Gene Symbol and Name | Acvr2a, activin receptor IIA | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | ACTRII; ACVR2; ActRIIa; Acvr2; rActR-II; tActRII; | ||
| Molecular Note | A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. [MGI Ref ID J:23924] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Acvr2atm1Zuk, Standard PCR
Human HPRT, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Matzuk MM; Kumar TR; Bradley A. 1995. Different phenotypes for mice deficient in either activins or activin receptor type II [see comments] Nature 374(6520):356-60. [PubMed: 7885474] [MGI Ref ID J:23924]
Additional References
Matzuk MM; Kumar TR; Vassalli A; Bickenbach JR; Roop DR; Jaenisch R; Bradley A. 1995. Functional analysis of activins during mammalian development [see comments] Nature 374(6520):354-6. [PubMed: 7885473] [MGI Ref ID J:23923]
Acvr2atm1Zuk relatedCoerver KA; Woodruff TK; Finegold MJ; Mather J; Bradley A; Matzuk MM. 1996. Activin signaling through activin receptor type II causes the cachexia-like symptoms in inhibin-deficient mice. Mol Endocrinol 10(5):534-43. [PubMed: 8732684] [MGI Ref ID J:112001]
Gamer LW; Tsuji K; Cox K; Capelo LP; Lowery J; Beppu H; Rosen V. 2011. BMPR-II is dispensable for formation of the limb skeleton. Genesis 49(9):719-24. [PubMed: 21538804] [MGI Ref ID J:175737]
Kumar TR; Agno J; Janovick JA; Conn PM; Matzuk MM. 2003. Regulation of FSHbeta and GnRH receptor gene expression in activin receptor II knockout male mice. Mol Cell Endocrinol 212(1-2):19-27. [PubMed: 14654247] [MGI Ref ID J:87886]
Kumar TR; Varani S; Wreford NG; Telfer NM; de Kretser DM; Matzuk MM. 2001. Male reproductive phenotypes in double mutant mice lacking both FSHbeta and activin receptor IIA. Endocrinology 142(8):3512-8. [PubMed: 11459797] [MGI Ref ID J:108808]
Li Q; Karam SM; Coerver KA; Matzuk MM; Gordon JI. 1998. Stimulation of activin receptor II signaling pathways inhibits differentiation of multiple gastric epithelial lineages. Mol Endocrinol 12(2):181-92. [PubMed: 9482661] [MGI Ref ID J:110642]
Ma X; Reyna A; Mani SK; Matzuk MM; Kumar TR. 2005. Impaired male sexual behavior in activin receptor type II knockout mice. Biol Reprod 73(6):1182-90. [PubMed: 16093358] [MGI Ref ID J:115447]
Naz RK; Rajesh C. 2005. Gene knockouts that cause female infertility: search for novel contraceptive targets Front Biosci 10:2447-2459. [PubMed: 15970507] [MGI Ref ID J:103183]
Wreford NG; Rajendra Kumar T; Matzuk MM; de Kretser DM. 2001. Analysis of the testicular phenotype of the follicle-stimulating hormone beta-subunit knockout and the activin type II receptor knockout mice by stereological analysis. Endocrinology 142(7):2916-20. [PubMed: 11416011] [MGI Ref ID J:71932]
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 & Husbandry The strain originated on a B6,129 background and is currently on the same background. The investigator maintains the strain by mating homozygous males with heterozygous females. Homozygous males exhibit delayed fertility. Per Dr. Matzuk it is delayed by only a few weeks and there is no breeding problem after that. Expected coat color from breeding:Black Diet Information LabDiet® 5K52/5K67
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 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.
Embryos
Price (US dollars $) Frozen Embryo $1600.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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 |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 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.
Embryos
Price (US dollars $) Frozen Embryo $2080.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| 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
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Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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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 UseContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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