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Type Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N?+2F4p + N1 (09-NOV-05) Donating Investigator T. 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 | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| Considerations for Choosing Controls | ||
View Related Disease (OMIM) Terms
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Acvr2atm1Zuk/Acvr2atm1Zuk
either: 129 or (involves: 129S7/SvEvBrd * C57BL/6)
- lethality-prenatal/perinatal
- neonatal lethality (MGI Ref ID J:23924)
- 22% (mice exhibiting craniofacial defects) died within minutes of birth
- craniofacial phenotype
- abnormal craniofacial bone morphology (MGI Ref ID J:23924)
- mice displaying facial abnormalities died within minutes of birth
- mandible hypoplasia (MGI Ref ID J:23924)
- 22% of the mice displayed hypoplastic mandibles
- some mice displayed defects in the mandibular cartilage
- absent incisors (MGI Ref ID J:23924)
- secondary to the hypoplastic mandibles
- cleft palate (MGI Ref ID J:23924)
- secondary to the hypoplastic mandibles
- endocrine/exocrine gland phenotype
- *normal* endocrine/exocrine gland phenotype (MGI Ref ID J:23924)
- normal lutenizing hormone (LH) levels in male mice
- abnormal ovary morphology (MGI Ref ID J:23924)
- abnormal ovarian follicle morphology (MGI Ref ID J:23924)
- follicular atresia observed
- absent corpus luteum (MGI Ref ID J:23924)
- abnormal seminiferous tubule morphology (MGI Ref ID J:23924)
- reduction in tubule volume
- small testis (MGI Ref ID J:23924)
- exhibited from 21 d of age through adulthoods
- homeostasis/metabolism phenotype
- suppressed circulating follicle stimulating hormone level (MGI Ref ID J:23924)
- decrease FSH levels in both males and females
- reproductive system phenotype
- *normal* reproductive system phenotype (MGI Ref ID J:23924)
- normal stages of spermatogenesis
- abnormal estrous cycle (MGI Ref ID J:23924)
- abnormal ovary morphology (MGI Ref ID J:23924)
- abnormal ovarian follicle morphology (MGI Ref ID J:23924)
- follicular atresia observed
- absent corpus luteum (MGI Ref ID J:23924)
- abnormal seminiferous tubule morphology (MGI Ref ID J:23924)
- reduction in tubule volume
- abnormal uterus morphology (MGI Ref ID J:23924)
- thin uterus
- azoospermia (MGI Ref ID J:23924)
- epididymis devoid of spermatozoa at 42 days of age
- delayed male fertility (MGI Ref ID J:23924)
- average age of male fertility was 78 d, compared to 59 d in heterozygous littermates
- putatively resulting from a decrease in the amount of spermatozoa
- female infertility (MGI Ref ID J:23924)
- small testis (MGI Ref ID J:23924)
- exhibited from 21 d of age through adulthoods
- skeleton phenotype
- abnormal craniofacial bone morphology (MGI Ref ID J:23924)
- mice displaying facial abnormalities died within minutes of birth
- mandible hypoplasia (MGI Ref ID J:23924)
- 22% of the mice displayed hypoplastic mandibles
- some mice displayed defects in the mandibular cartilage
- vision/eye phenotype
- abnormal eyelid morphology (MGI Ref ID J:23924)
- 11% of the mice exhibited closed eyelids
- digestive/alimentary phenotype
- cleft palate (MGI Ref ID J:23924)
- secondary to the hypoplastic mandibles
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Acvr2atm1Zuk/Acvr2atm1Zuk
Background Not Specified
- endocrine/exocrine gland phenotype
- abnormal Sertoli cell morphology (MGI Ref ID J:71932)
- 30 to 39% decrease in the number of sertoli cells relative to wild-type
- decreased testis weight (MGI Ref ID J:71932)
- 60% reduction in weight relative to wild-type
- reproductive system phenotype
- abnormal Sertoli cell morphology (MGI Ref ID J:71932)
- 30 to 39% decrease in the number of sertoli cells relative to wild-type
- decreased male germ cell number (MGI Ref ID J:71932)
- reductions in the number of spermatogonia and round spermatids
- decreased testis weight (MGI Ref ID J:71932)
- 60% reduction in weight relative to wild-type
View Research Applications
Research Applications
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)
| 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-Hprt1b-m2 | ||
| ES Cell Line Name | AB2.1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt1 | ||
| 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 Protocols
Human HPRT, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
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]
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]
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]
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 for USA, Canada and Mexico shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00 Cryopreserved Embryos Fee $1600.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00 Cryopreserved Embryos Fee $2080.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 100903 B6129PF2/J | ||
| 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. | ||
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