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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
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- 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
Former Names C3FeB6 A/Aw-J-ank/J (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Background Strain C3FeB6 Donor Strain JGBF F15 Generation N32 F2p
Generation DefinitionsAppearance
agouti with stiff feet
Related Genotype: A/A Ankank/Ankank
white-bellied agouti with stiff feet
Related Genotype: A/Aw-J Ankank/Ankank
agouti, unaffected
Related Genotype: A/A +/?
white-bellied agouti, unaffected
Related Genotype: A/Aw-J +/? or Aw-J/Aw-J +/?Description
The progressive ankylosis allele (ank) is a spontaneous recessive mutation that causes a severe phenotype of joint calcification and degeneration. Few homozygotes survive beyond 5 months of age, although the adults can breed. Generally no more than 2 litters are produced by homozygotes of either sex. At 4 or 5 weeks of age, homozygotes can be identified by their inability to grasp a wire cage lid with their front paws when suspended above it. The joints swell with a milky fluid, and undergo a process proceeding through mononuclear inflammatory infiltration, hydroxyapatite deposition and increased calcification, hyperplasia, and fibrous and bony ankylosis. (for details see Mahowald et al., 1989; Hakim et al., 1984; Sweet and Green, 1981.) The front feet are affected before the hind feet and the phenotype is more severe in the most distal joints of the limbs. Hyperplasia and degeneration of the joint tissues, and ankylosis occur progressively, decreasing mobility and resulting in a rigid, crouched posture in the adult. Their gate becomes slow, halting, and flatfooted. The morphological changes underlying the stiffening of the vertebral column and resulting thoracic kyphosis are detailed by Sampson, 1988a and 1988b, and Sampson et al., 1991.There is an immune cell involvement in the joints secondary to the central defect. Treatment of ank/ank mice with hydrocortisone beginning at 5 weeks of age resulted in reduced synovial and subsynovial hyperplasia, reduced growth of cartilaginous and bony bridges, and increased accumulation of intra-articular apatite possibly due to the reduction in macrophage activity (Hakim et al., 1986.). Reconstitution of wild type mice with bone marrow or spleen cells from ank/ank mice does not transfer disease and reconstitution of ank/ank mice with wild type bone marrow or spleen cells does not prevent disease (Krug et al., 1997). Additionally, there is an immune cell defect. There is a reduction in the response of spleen cells to phytohaemagglutinin or concanavalin A although the response to LPS appears normal. Spleen cells or macrophages from ank/ank mice do not suppress normal spleen cell responses to phytohaemagglutinin and wild type spleen cells or macrophages do not restore phytohaemagglutinin responsiveness to spleen cells from ank/ank mice (Krug et al., 1989). Fibroblasts from ank/ank mice are Hyperproliferative in response to transforming growth factor beta 1 (Krug, 1998). No impact was found on the phenotype of ank/+ or ank/ank mice when transgenic HLA-B27 was co-expressed (Krug and Taurog, 2000).
In addition to progressive ankylosis and calcification of the peripheral joints and axial skeleton, homozygotes have a smaller overall body size, and some develop balanitis, priapism, and scaling skin lesions on the plantar surface of the paws. The hypermineralization phenotype is associated with abnormal inorganic pyrophophate levels and the downregulation of osteopontin (Harmey et al., 2004).
Development
The progressive ankylosis mutation arose spontaneously in the strain JGBF/Le (Stock No. 000260), a balanced stock for jagged tail (jg) and buff (bf). An affected female displaying a flat-footed gait with rigid toes was the founder for the ank strain. This female's progeny were bred onto a C3FeB6 background via an outcross-intercross breeding scheme. Thus homozygotes were bred to C3FeB6F1 then their obligate heterozygous offspring were sibling mated to produce homozygous breeders for the next generation. The initial characterization was done on N5F1 mice. In June 1976 this strain was at N6, in early 1979 it was at N11, and in November 1983 it reached N24. Neither jg nor bf have been found in this strain since N2. C3FeB6-A/Aw-J-ank was frozen in 1987 by breeding N32 homozygotes to C3FeB6-A/Aw-J to get heterozygous N33 embryos.
Control Information
| Control | ||
|---|---|---|
| +/? sibling | ||
| 001203 C3FeB6F1/J A/Aw-J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying A allele
002083 B6 x B6EiC3 a/A-T(7;16)235Dn/J 000507 B6 x B6EiC3 a/A-Otcspf/J 000628 B6.CE-A Amy1b Amy2a5b/J 004200 B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ 000604 B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J 003301 B6C3FeF1 a/A-Eya1bor/J 000314 B6CBACa Aw-J/A-EdaTa/J-XO 006450 B6EiC3 a/A-Vss/GrsrJ 000557 B6EiC3-+ a/LnpUl A/J 000504 B6EiC3Sn a/A-Cacnb4lh/J 000553 B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J 001811 B6EiC3Sn a/A-Otcspf-ash/J 002343 B6EiC3Sn a/A-Otcspf/J 001923 B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J 000638 C3FeB6 A/Aw-J-Sptbn4qv-J/J 000283 LT.CAST-A/J 001759 STOCK A Tyrc Sha/J 001145 WSB/EiJ View Strains carrying A (18 strains)
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Chondrocalcinosis 2; CCAL2 (ANKH)
Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD (ANKH)
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Ankank/Ankank
involves: C3HeB/FeJ * C57BL/6J * JGBF/LeJ
- mortality/aging
- premature death
- few mutants survive beyond 5 months of age (MGI Ref ID J:6580)
- growth/size phenotype
- decreased body weight
- lower body weight, first noticeable between 10 and 20 days of age (MGI Ref ID J:6580)
- reproductive system phenotype
- reduced female fertility
- do not produce more than two litters (MGI Ref ID J:6580)
- reduced male fertility
- do not produce more than two litters (MGI Ref ID J:6580)
- skeleton phenotype
- abnormal joint mobility
- joint mobility is decreased at 6 weeks and is more severe at 12 weeks similar to in Anktm1.1Kng homozygotes (MGI Ref ID J:122727)
- reduction in joint mobility in the forelimb joints are more severe than in the hindlimbs and distal joint in the hindlimbs are more severely affected than proximal joints (MGI Ref ID J:122727)
- progressive loss of mobility of the joints occurs with age; stiffening of the joints is first apparent at 4-5 weeks of age in the forefeet and eventually involves all the joints of the limbs and vertebral column (MGI Ref ID J:6580)
- when lifted by the tail from a wire grid, 4.5-5 week old mutants are unable to cling to the grid as the toes are very rigid (MGI Ref ID J:6580)
- wean age homozygotes are unable to grasp a wire cage tope due to stiffness in the digits (MGI Ref ID J:63420)
- stiffness of joints observed at 4-5 weeks of age (MGI Ref ID J:168526)
- abnormal skeleton morphology
- progressive ankylosis (MGI Ref ID J:6580)
- abnormal cartilage morphology
- abnormal femur morphology
- metaphyseal trabeculae reduced in both thickness and number (MGI Ref ID J:168526)
- abnormal joint morphology
- mutants develop a noninflammatory degenerative joint disease, with stiffness of joints starting in forefeet and toes, quickly spreading to other joints (MGI Ref ID J:6580)
- bone volume in joints is significantly increased and increases in severity with time (MGI Ref ID J:122727)
- mutants show increased numbers of osteoblast-like cells in the synovial membrane of joints and excessive amount of fibrous tissue, cartilage, and bone in joints at later stages, with many areas of cystic necrosis (MGI Ref ID J:6580)
- synovial lining in most places, except over articular cartilage or ligament, has a thickened surface layer (MGI Ref ID J:6580)
- joint space narrowing, accumulation of debris in the joint space, and ectopic calcification in and around the affected joints (MGI Ref ID J:63420)
- abnormal joint capsule morphology
- calcified joint
- abnormal and increased calcification within some of the joints (knee, elbow, vertebral column) and joint cavities, resulting in calcified masses at various places near joints (MGI Ref ID J:6580)
- ectopic calcification in and around the affected joints (MGI Ref ID J:63420)
- excessive bony deposits in joints (MGI Ref ID J:168526)
- fused joints
- progressive akylosis, such that by 17 weeks of age, the joints of the foot, including the wrist, and of the ribs with adjacent sternebrae are completely ankylosed (MGI Ref ID J:6580)
- fore and hind feet at 31 weeks of age have toe bones that show bony and cartilaginous fusions across the joints, usually including the sesamoid bones (MGI Ref ID J:6580)
- abnormal ligament morphology
- abnormal sesamoid bone of gastrocnemius morphology
- some of the sesamoid bones are enlarged and appear to be fused with the nearest long bone (MGI Ref ID J:6580)
- abnormal tendon morphology
- degeneration in many, although not all, tendons associated with affected joints (MGI Ref ID J:6580)
- kyphosis
- adults exhibit thoracic kyphosis and prominent haunches (MGI Ref ID J:6580)
- arthritis
- histology of the digit joints shows narrowing of the joint spaces, erosion of cartilage, accumulation of debris, and ectopic calcification (MGI Ref ID J:63420)
- muscle phenotype
- abnormal tendon morphology
- degeneration in many, although not all, tendons associated with affected joints (MGI Ref ID J:6580)
- craniofacial phenotype
- abnormal tooth hard tissue morphology
- abnormal cementum morphology
- at 12 weeks, enlargement of the cementum (MGI Ref ID J:122727)
- behavior/neurological phenotype
- abnormal gait
- slow halting gait, with all feet flat against the surface (MGI Ref ID J:6580)
- abnormal posture
- adults exhibit a rigid posture (MGI Ref ID J:6580)
- decreased grip strength
- unable to grab cage bars at 4-5 weeks of age (MGI Ref ID J:168526)
- limbs/digits/tail phenotype
- abnormal limb morphology
- in the limbs, abnormalities are more severe in the distal than proximal joints and in the forelimbs than in the hindlimbs (MGI Ref ID J:6580)
- abnormal digit morphology
- toes of the forefeet are stiff and flattened at 33 and 35 days of age, while these abnormalities occur later in the hindfeet (11-17 weeks of age) (MGI Ref ID J:6580)
- abnormal femur morphology
- metaphyseal trabeculae reduced in both thickness and number (MGI Ref ID J:168526)
- abnormal sesamoid bone of gastrocnemius morphology
- some of the sesamoid bones are enlarged and appear to be fused with the nearest long bone (MGI Ref ID J:6580)
- cellular phenotype
- necrosis
- necrosis in the fibrous tissue of the joints, including the ligamets and cartilage (MGI Ref ID J:6580)
- homeostasis/metabolism phenotype
- abnormal ion homeostasis
- primary skin fibroblast cultures show an increase in intracellular and a decrease in extracellular pyrophosphate indicative of defective phosphate homeostatis, and this defect is corrected by transfection with wildtype Ank (MGI Ref ID J:63420)
- immune system phenotype
- arthritis
- histology of the digit joints shows narrowing of the joint spaces, erosion of cartilage, accumulation of debris, and ectopic calcification (MGI Ref ID J:63420)
Ankank/Ankank
involves: BALB/c * C3H * C57BL/6 * JGBF/Le
- skeleton phenotype
- abnormal osteoblast physiology
- cardiovascular system phenotype
- calcified aorta
- aortic media exhibit calcification and chondrogenic differentiation unlike wild-type aortas (MGI Ref ID J:110028)
Ankank/Ankank
Background Not Specified
- skeleton phenotype
- abnormal chondrocyte morphology
- 6-8 week old affected mice have chondrocytes with numerous large vacuoles and abnormal condensations of glycogen (MGI Ref ID J:751)
- abnormal intervertebral disk morphology
- EM analysis shows accumulation of electron-dense crystals aligned along collagen fibers; mitochondria of some cells have a high affinity for calcium phosphate crystals (MGI Ref ID J:751)
- in some disk regions cartilage is so heavily mineralized that mineral deposists extend beyond the extracellular matrix over cell cytoplasm (MGI Ref ID J:751)
- ossification of intervertebral disk space is common (MGI Ref ID J:751)
- calcified intervertebral disk
- crystals are in the form of calcium hydroxyapatite (MGI Ref ID J:751)
This mouse can be used to support research in many areas including:Ankank related
Dermatology Research
Skin and Hair Texture Defects
Developmental Biology Research
Growth Defects
Growth Defects (homozygous)
Skeletal Defects
Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Inflammation
Mouse/Human Gene Homologs
craniometaphyseal dysplasia, autosomal dominant
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | A | ||
|---|---|---|---|
| Allele Name | wild-type agouti | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | dark-bellied agouti; | ||
| Strain of Origin | various | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| General Note | The A allele is usually regarded as a wild-type allele. The C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back. | ||
| Molecular Note | This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene. [MGI Ref ID J:3523] | ||
| Allele Symbol | Aw-J | ||
| Allele Name | white bellied agouti Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | AWJ; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | Ankank | ||
| Allele Name | progressive ankylosis | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ank; | ||
| Strain of Origin | JGBF/LeJ | ||
| Gene Symbol and Name | Ank, progressive ankylosis | ||
| Chromosome | 15 | ||
| Gene Common Name(s) | CCAL2; CMDJ; CPPDD; D15Ertd221e; DNA segment, Chr 15, ERATO Doi 221, expressed; HANK; MANK; mKIAA1581; | ||
| Molecular Note | A single nucleotide G to T substitution is predicted to result in a substitution at codon 440 from Glu to a stop codon in the encoded protein. [MGI Ref ID J:63420] | ||
References
References provided by MGI
Selected Reference(s)
Hakim FT; Brown KS; Oppenheim JJ. 1986. Hereditary joint disorder in progressive ankylosis (ank/ank) mice. II. Effect of high-dose hydrocortisone treatment on inflammation and intraarticular calcium hydroxyapatite deposits. Arthritis Rheum 29(1):114-23. [PubMed: 3004514] [MGI Ref ID J:109949]
Hakim FT; Cranley R; Brown KS; Eanes ED; Harne L; Oppenheim JJ. 1984. Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy. Arthritis Rheum 27(12):1411-20. [PubMed: 6095872] [MGI Ref ID J:7672]
Ho AM; Johnson MD; Kingsley DM. 2000. Role of the mouse ank gene in control of tissue calcification and arthritis [see comments] Science 289(5477):265-70. [PubMed: 10894769] [MGI Ref ID J:63420]
Krug HE. 1998. Fibroblasts from mice with progessive ankylosis proliferate excessively in response to transforming growth factor-beta 1. J Investig Med 46(4):134-9. [PubMed: 9635372] [MGI Ref ID J:109902]
Krug HE; Mahowald ML; Clark C. 1989. Progressive ankylosis (ank/ank) in mice: an animal model of spondyloarthropathy. III. Proliferative spleen cell response to T cell mitogens. Clin Exp Immunol 78(1):97-101. [PubMed: 2805429] [MGI Ref ID J:109935]
Krug HE; Taurog JD. 2000. HLA-B27 has no effect on the phenotypic expression of progressive ankylosis in ank/ank mice J Rheumatol 27(5):1257-9. [PubMed: 10813297] [MGI Ref ID J:62431]
Krug HE; Wietgrefe MM; Ytterberg SR; Taurog JD; Mahowald ML. 1997. Murine progressive ankylosis is not immunologically mediated. J Rheumatol 24(1):115-22. [PubMed: 9002021] [MGI Ref ID J:109905]
Mahowald ML; Krug H; Halverson P. 1989. Progressive ankylosis (ank/ank) in mice: an animal model of spondyloarthropathy. II. Light and electron microscopic findings. J Rheumatol 16(1):60-6. [PubMed: 2541245] [MGI Ref ID J:23576]
Nurnberg P; Thiele H; Chandler D; Hohne W; Cunningham ML; Ritter H; Leschik G; Uhlmann K; Mischung C; Harrop K; Goldblatt J; Borochowitz ZU; Kotzot D; Westermann F; Mundlos S; Braun HS; Laing N; Tinschert S. 2001. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28(1):37-41. [PubMed: 11326272] [MGI Ref ID J:69128]
Reichenberger E; Tiziani V; Watanabe S; Park L; Ueki Y; Santanna C; Baur ST; Shiang R; Grange DK; Beighton P; Gardner J; Hamersma H; Sellars S; Ramesar R; Lidral AC; Sommer A; Raposo do Amaral CM; Gorlin RJ; Mulliken JB; Olsen BR. 2001. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68(6):1321-6. [PubMed: 11326338] [MGI Ref ID J:109879]
Sampson HW. 1988. Spondyloarthropathy in progressive ankylosis (ank/ank) mice: morphological features. Spine 13(6):645-9. [PubMed: 3175755] [MGI Ref ID J:109942]
Sampson HW. 1988. Ultrastructure of the mineralizing metacarpophalangeal joint of progressive ankylosis (ank/ank) mice. Am J Anat 182(3):257-69. [PubMed: 3213824] [MGI Ref ID J:109941]
Sampson HW; Davis RW; Dufner DC. 1991. Spondyloarthropathy in progressive ankylosis mice: ultrastructural features of the intervertebral disk. Acta Anat (Basel) 141(1):36-41. [PubMed: 1659102] [MGI Ref ID J:751]
Sweet HO; Green MC. 1981. Progressive ankylosis, a new skeletal mutation in the mouse. J Hered 72(2):87-93. [PubMed: 7276519] [MGI Ref ID J:6580]
Additional References
A relatedAw-J relatedBlewitt ME; Vickaryous NK; Hemley SJ; Ashe A; Bruxner TJ; Preis JI; Arkell R; Whitelaw E. 2005. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Proc Natl Acad Sci U S A 102(21):7629-34. [PubMed: 15890782] [MGI Ref ID J:99816]
Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152] [MGI Ref ID J:3523]
Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730] [MGI Ref ID J:16568]
Czyzyk TA; Sikorski MA; Yang L; McKnight GS. 2008. Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. Proc Natl Acad Sci U S A 105(1):276-81. [PubMed: 18172198] [MGI Ref ID J:131039]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Dry FW. 1928. The agouti coloration of the mouse (Mus Musculus) and the rat (Mus Norvegicus). J Genet 20:131-144. [MGI Ref ID J:46318]
Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176] [MGI Ref ID J:13122]
Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179. [MGI Ref ID J:156092]
Guido V; and The Mouse Mutant Resource (MMR) at The Jackson Laboratory. 2002. Two new mutations of white bellied agouti, w-46J and w-47J MGI Direct Data Submission :. [MGI Ref ID J:77218]
Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101] [MGI Ref ID J:129904]
Kelly EM. 1957. Beige, bg Mouse News Lett 16:36. [MGI Ref ID J:29744]
Mather K; North SB. 1940. Umbrous: a case of dominance modification in mice. J Genet 40:229-41. [MGI Ref ID J:280]
MouseBookTM. 2005. Information obtained from MouseBook<sup>TM</sup>, Medical Research Council Mammalian Genetics Unit, Harwell, UK. Unpublished :. [MGI Ref ID J:169366]
Perry WL; Copeland NG; Jenkins NA. 1994. The molecular basis for dominant yellow agouti coat color mutations. Bioessays 16(10):705-7. [PubMed: 7980472] [MGI Ref ID J:21244]
Phillips RJS. 1966. A cis-trans position effect at the A locus of the house mouse. Genetics 54(2):485-95. [PubMed: 5968639] [MGI Ref ID J:5027]
Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345. [MGI Ref ID J:13094]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Siracusa LD; Washburn LL; Swing DA; Argeson AC; Jenkins NA; Copeland NG. 1995. Hypervariable yellow (Ahvy), a new murine agouti mutation: Ahvy displays the largest variation in coat color phenotypes of all known agouti alleles. J Hered 86(2):121-8. [PubMed: 7751596] [MGI Ref ID J:24247]
Ankank relatedAberg T; Wang XP; Kim JH; Yamashiro T; Bei M; Rice R; Ryoo HM; Thesleff I. 2004. Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270(1):76-93. [PubMed: 15136142] [MGI Ref ID J:92174]
Banerjee H; Das A; Srivastava S; Mattoo HR; Thyagarajan K; Khalsa JK; Tanwar S; Das DS; Majumdar SS; George A; Bal V; Durdik JM; Rath S. 2012. A role for apoptosis-inducing factor in T cell development. J Exp Med 209(9):1641-53. [PubMed: 22869892] [MGI Ref ID J:191446]
Barsh GS; Epstein CJ. 1989. Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus. Genetics 121(4):811-8. [PubMed: 2566558] [MGI Ref ID J:9799]
Baurle J; Vogten H; Grusser-Cornehls U. 1998. Course and targets of the calbindin D-28k subpopulation of primary vestibular afferents. J Comp Neurol 402(1):111-28. [PubMed: 9831049] [MGI Ref ID J:118430]
Boran T; Lesot H; Peterka M; Peterkova R. 2005. Increased apoptosis during morphogenesis of the lower cheek teeth in tabby/EDA mice. J Dent Res 84(3):228-33. [PubMed: 15723861] [MGI Ref ID J:112546]
Chinta SJ; Rane A; Yadava N; Andersen JK; Nicholls DG; Polster BM. 2009. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med 46(7):939-47. [PubMed: 19280713] [MGI Ref ID J:145908]
Cui CY; Hashimoto T; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2006. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A 103(24):9142-7. [PubMed: 16738056] [MGI Ref ID J:111051]
Cui CY; Kunisada M; Esibizione D; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2007. Lymphotoxin-beta regulates periderm differentiation during embryonic skin development. Hum Mol Genet 16(21):2583-90. [PubMed: 17673451] [MGI Ref ID J:129949]
Cunningham D; Spychala K; McLarren KW; Garza LA; Boerkoel CF; Herman GE. 2009. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse. Mol Genet Metab 98(4):356-66. [PubMed: 19631568] [MGI Ref ID J:155028]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Esibizione D; Cui CY; Schlessinger D. 2008. Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice. Gene 427(1-2):42-6. [PubMed: 18848976] [MGI Ref ID J:143603]
Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
Granholm DE; Reese RN; Granholm NH. 1995. Agouti alleles influence thiol concentrations in hair follicles and extrafollicular tissues of mice (Ay/a, AwJ/AwJ, a/a). Pigment Cell Res 8(6):302-6. [PubMed: 8789738] [MGI Ref ID J:31403]
Hisatomi T; Nakao S; Murakami Y; Noda K; Nakazawa T; Notomi S; Connolly E; She H; Almulki L; Ito Y; Vavvas DG; Ishibashi T; Miller JW. 2012. The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization. Am J Pathol 181(1):53-61. [PubMed: 22613025] [MGI Ref ID J:185543]
Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990] [MGI Ref ID J:61324]
Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. [PubMed: 1409442] [MGI Ref ID J:1295]
Katoh A; Yoshida T; Himeshima Y; Mishina M; Hirano T. 2005. Defective control and adaptation of reflex eye movements in mutant mice deficient in either the glutamate receptor delta2 subunit or Purkinje cells. Eur J Neurosci 21(5):1315-26. [PubMed: 15813941] [MGI Ref ID J:101081]
Knapp PE; Adjan VV; Hauser KF. 2009. Cell-specific loss of kappa-opioid receptors in oligodendrocytes of the dysmyelinating jimpy mouse. Neurosci Lett 451(2):114-8. [PubMed: 19110031] [MGI Ref ID J:146365]
Lee M; Kim A; Chua SC Jr; Obici S; Wardlaw SL. 2007. Transgenic MSH overexpression attenuates the metabolic effects of a high-fat diet. Am J Physiol Endocrinol Metab 293(1):E121-31. [PubMed: 17374695] [MGI Ref ID J:126508]
Lu W; Tsirka SE. 2002. Partial rescue of neural apoptosis in the Lurcher mutant mouse through elimination of tissue plasminogen activator. Development 129(8):2043-50. [PubMed: 11934869] [MGI Ref ID J:111363]
Martin LA; Goldowitz D; Mittleman G. 2010. Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism. Eur J Neurosci 31(3):544-55. [PubMed: 20105240] [MGI Ref ID J:159466]
Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326] [MGI Ref ID J:5288]
Mitsumori K; Yasuhara K; Mori I; Hayashi S; Shimo T; Onodera H; Nomura T; Hayashi Y. 1998. Pulmonary fibrosis caused by N-methyl-N-nitrosourethane inhibits lung tumorigenesis by urethane in transgenic mice carrying the human prototype c-Ha-ras gene. Cancer Lett 129(2):181-90. [PubMed: 9719460] [MGI Ref ID J:52138]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
Mullen RJ. 1974. A<w-J> - white-bellied agouti-J Mouse News Lett 50:38. [MGI Ref ID J:64104]
Mustonen T; Ilmonen M; Pummila M; Kangas AT; Laurikkala J; Jaatinen R; Pispa J; Gaide O; Schneider P; Thesleff I; Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131(20):4907-19. [PubMed: 15371307] [MGI Ref ID J:128256]
O'donnell SM; Hansberger MW; Connolly JL; Chappell JD; Watson MJ; Pierce JM; Wetzel JD; Han W; Barton ES; Forrest JC; Valyi-Nagy T; Yull FE; Blackwell TS; Rottman JN; Sherry B; Dermody TS. 2005. Organ-specific roles for transcription factor NF-kappaB in reovirus-induced apoptosis and disease. J Clin Invest 115(9):2341-2350. [PubMed: 16100570] [MGI Ref ID J:100906]
Peng J; Wu Z; Wu Y; Hsu M; Stevenson FF; Boonplueang R; Roffler-Tarlov SK; Andersen JK. 2002. Inhibition of caspases protects cerebellar granule cells of the weaver mouse from apoptosis and improves behavioral phenotype. J Biol Chem 277(46):44285-91. [PubMed: 12221097] [MGI Ref ID J:119427]
Peng J; Xie L; Stevenson FF; Melov S; Di Monte DA; Andersen JK. 2006. Nigrostriatal dopaminergic neurodegeneration in the weaver mouse is mediated via neuroinflammation and alleviated by minocycline administration. J Neurosci 26(45):11644-51. [PubMed: 17093086] [MGI Ref ID J:114943]
Poole TW. 1975. Dermal-epidermal interactions and the action of alleles at the agouti locus in the mouse. Dev Biol 42(2):203-10. [PubMed: 1090472] [MGI Ref ID J:5519]
Probst FJ; Cooper ML; Cheung SW; Justice MJ. 2008. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered 99(5):512-7. [PubMed: 18499648] [MGI Ref ID J:138994]
Prtenjaca A; Hill KA. 2011. Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue((R)) mice but Class II deletions occur preferentially in young harlequin cerebellum. Mutat Res 707(1-2):53-60. [PubMed: 21195094] [MGI Ref ID J:168461]
Smith DE; Xu SG. 2003. Ultrastructural organization of GABA-like immunoreactive profiles in the weaver substantia nigra. J Neurocytol 32(3):293-303. [PubMed: 14724391] [MGI Ref ID J:121345]
Vandenput L; Swinnen JV; Boonen S; Van Herck E; Erben RG; Bouillon R; Vanderschueren D. 2004. Role of the androgen receptor in skeletal homeostasis: the androgen-resistant testicular feminized male mouse model. J Bone Miner Res 19(9):1462-70. [PubMed: 15312246] [MGI Ref ID J:111491]
Wu Q; Miller RH; Ransohoff RM; Robinson S; Bu J; Nishiyama A. 2000. Elevated levels of the chemokine GRO-1 correlate with elevated oligodendrocyte progenitor proliferation in the jimpy mutant. J Neurosci 20(7):2609-17. [PubMed: 10729341] [MGI Ref ID J:109469]
Yamago G; Takata Y; Furuta I; Urase K; Momoi T; Huh N. 2001. Suppression of hair follicle development inhibits induction of sonic hedgehog, patched, and patched-2 in hair germs in mice. Arch Dermatol Res 293(9):435-41. [PubMed: 11758785] [MGI Ref ID J:116953]
Yoshida T; Katoh A; Ohtsuki G; Mishina M; Hirano T. 2004. Oscillating Purkinje neuron activity causing involuntary eye movement in a mutant mouse deficient in the glutamate receptor delta2 subunit. J Neurosci 24(10):2440-8. [PubMed: 15014119] [MGI Ref ID J:97010]
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van Empel VP; Bertrand AT; van der Nagel R; Kostin S; Doevendans PA; Crijns HJ; de Wit E; Sluiter W; Ackerman SL; De Windt LJ. 2005. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 96(12):e92-e101. [PubMed: 15933268] [MGI Ref ID J:110278]
Chen IP; Wang CJ; Strecker S; Koczon-Jaremko B; Boskey A; Reichenberger EJ. 2009. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res 24(7):1206-15. [PubMed: 19257826] [MGI Ref ID J:168526]
Gurley KA; Chen H; Guenther C; Nguyen ET; Rountree RB; Schoor M; Kingsley DM. 2006. Mineral formation in joints caused by complete or joint-specific loss of ANK function. J Bone Miner Res 21(8):1238-47. [PubMed: 16869722] [MGI Ref ID J:122727]
Harmey D; Hessle L; Narisawa S; Johnson KA; Terkeltaub R; Millan JL. 2004. Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. Am J Pathol 164(4):1199-209. [PubMed: 15039209] [MGI Ref ID J:89120]
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Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
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.
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 |
|
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.
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).
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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
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| +/? sibling | ||
| 001203 C3FeB6F1/J A/Aw-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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JAX® Services
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use
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Contact information
General inquiries regarding Terms of UseContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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.