Description

Strain Information

Type Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N7 F28

Development
Myodystrophy (Large^myd) arose spontaneously in 1963 at The Jackson Laboratory in the lethal spotting stock (LS/LeJ) which had been imported from University College, London in 1961. The first affected male was outcrossed to a C57BL/6J female. Matings of a homoygote times a heterozygote were carried out as often as possible or as heterozygous pairs. Close linkage was found on Chromosome 8 and oligosyndactylism (Os) was used as a marker. A Large^myd/+ male at F38 was crossed to a pintail (Pt), oligosyndactyly (Os) female of the ROP strain and after 3 sib matings an Os/+ was selected and this genotype was crossed 7 times to the +/+ members of the strain. At N7 an Os/+ was again crossed to a Large^myd/+ and the strain was maintained by sibling matings selecting the Os phenotype which was generally Os +/+ Large^myd. It was cryopreserved in 1981 by mating Os +/+ Large^myd males at N7F22 -F27 to non Os (+ +/+ ?) females.

Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Large^myd allele

000226

B6C3Fe a/a-Largemyd/J

View Strains carrying   Large^myd     (1 strain)

Strains carrying   Os allele

000566	B6.Cg-Os +/+ Cacna1atg-la/J
003523	B6.ROP/Le-Os/J
000125	B6By.Cg-Sox18Ra Pt Os/J
000267	ROP/GnLeJ
002503	ROP/Le-Os Es1a/+ Es1a/J

View Strains carrying   Os     (5 strains)

Strains carrying other alleles of Large

005350	B6.CAST(Cg)-Largevls/Pjn
002491	B6.Cg-Largeenr-Tg(MpbReg)36Pop/J

View Strains carrying other alleles of Large     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A - Models with phenotypic similarity to human disease where etiologies are distinct.2
	Muscular Dystrophy, Congenital, Type 1d - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). 2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

Large^myd/Large⁺

        involves: C3HeB/FeJLe * C57BL/6

• behavior/neurological phenotype
• limb grasping (MGI Ref ID J:27793)
  • variability with respect to the severity of clasping hind limbs

Large^myd/Large^myd

        involves: STOCK Edn3^ls

• life span-post-weaning/aging
• premature death (MGI Ref ID J:5670)
  • average life span 17.25 weeks, range 5-39 weeks
• behavior/neurological phenotype
• abnormal gait (MGI Ref ID J:5670)
  • hind limbs held close to the body producing a short, shuffling gait
  • hind limbs never extended and dragged
• limb grasping (MGI Ref ID J:5670)
  • involves hind limbs
  • adduction of hind legs, flexion of the knee, ankles and toes
  • severe contraction of hind limbs sometimes by 3-4 months of age
• muscle phenotype
• abnormal muscle morphology (MGI Ref ID J:5670)
• abnormal skeletal muscle fiber morphology (MGI Ref ID J:5670)
  • variable fiber size
  • loss of striation
  • central migration of nuclei
  • nuclear "rowing"
• muscle degeneration (MGI Ref ID J:5670)
• myopathy (MGI Ref ID J:5670)
  • diffuse and progressive myopathy
  • widely distributed focal lesions in skeletal muscles as early as 16 days of age
• abnormal muscle physiology (MGI Ref ID J:5670)
• dystrophic muscle (MGI Ref ID J:5670)
• muscle calcification (MGI Ref ID J:12034)
  • elevated calcium levels in skeletal muscles, particularly the diaphragm
  • heart not affected
• myositis (MGI Ref ID J:5670)
  • mononuclear cell infiltration of areas surrounding degenerating fibers
• nervous system phenotype
• abnormal myelination (MGI Ref ID J:5974)
  • areas where nerves are completely deficient in myelin
• abnormal spinal nerve morphology (MGI Ref ID J:5974)
  • areas completely deficient in myelin
  • not every root is affected
  • observed in dorsal roots T13 to S1 and Ventral roots L1 to S1 (except L5)
  • L3 and L4 ventral roots most severely affected
• absent Schwann cells (MGI Ref ID J:5974)
  • usually unmyelinated nerves lack Schwann cells but sometimes Schwann cells present but lacking myelin
• growth/size phenotype
• decreased body weight (MGI Ref ID J:5670)
  • organ weights reduced comparably with reduced body weigh
• postnatal growth retardation (MGI Ref ID J:5670)
  • very severe at weaning
  • growth improved after weaning but mice always small
• skeleton phenotype
• abnormal bone structure (MGI Ref ID J:12034)
  • thinning of all bones examined
• kyphosis (MGI Ref ID J:5670)
  • thoracic kyphosis by 6-8 weeks of age
  • becoming progressively worse with age
• reproductive system phenotype
• reduced fertility (MGI Ref ID J:5670)
  • although not sterile, reproduction is very poor
• immune system phenotype
• myositis (MGI Ref ID J:5670)
  • mononuclear cell infiltration of areas surrounding degenerating fibers
• digestive/alimentary phenotype
• abnormal tongue morphology (MGI Ref ID J:5670)
  • musculature of tongue not affected until later
  • subepithelial fibrosis in tongues of older mice

Large^myd/Large^myd

        B6.Cg-Large^myd/Pjn

• vision/eye phenotype
• abnormal eye electrophysiology (MGI Ref ID J:100214)
  • amplitude of b-wave responses is reduced and delayed at all flash intensities in 2 month old mice
  • larger negative polarity a-wave in response to intermediate flash intensities in 2 month old mice
  • maximum amplitude of a-wave reduced in response to highest flash intensities in 2 month old mice
• abnormal retinal layer morphology (MGI Ref ID J:100214)
• disorganized retinal outer plexiform layer (MGI Ref ID J:100214)
  • layer is disorganized with a reduction in synaptic complexes
  • mitochondria are swollen with severe disruption of cristae
  • exhibits extracelluelar edema
  • layer is thinner than in control littermates
• thin retinal outer nuclear layer (MGI Ref ID J:100214)
  • almost 50% thinner than in controls
• muscle phenotype
• abnormal cardiac muscle morphology (MGI Ref ID J:100214)
  • myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
  • lesions observed in the left and right atria and ventricles
• abnormal diaphragm morphology (MGI Ref ID J:100214)
  • exhibits prominent interstial fibrosis with extensive degeneration and regeneration of myofibers at 1.5 months of age
  • by 4 months diaphragm exhibits necrosis and fatty infiltration
• abnormal soleus morphology (MGI Ref ID J:100214)
  • occasional signs of fiber-type grouping in 6 month old mice
• dilated cardiomyopathy (MGI Ref ID J:100214)
  • adult onset
• cardiovascular system phenotype
• abnormal cardiac muscle morphology (MGI Ref ID J:100214)
  • myocardium exhibits mild to moderate areas of cardiomyocyte degeneration with mycytolysis, necrosis and interstitial fibrosis in 5 month old mice
  • lesions observed in the left and right atria and ventricles
• dilated cardiomyopathy (MGI Ref ID J:100214)
  • adult onset

Large^myd/Large^myd

        involves: C3HeB/FeJLe * C57BL/6

• muscle phenotype
• abnormal skeletal muscle fiber morphology (MGI Ref ID J:27793)
• myopathy (MGI Ref ID J:27793)
  • foci of degeneration typically large and involving 20-50 fibers
• myositis (MGI Ref ID J:27793)
  • accompanies myocyte necrosis
• immune system phenotype
• myositis (MGI Ref ID J:27793)
  • accompanies myocyte necrosis
• hearing/vestibular/ear phenotype
• decreased brainstem auditory evoked potential (MGI Ref ID J:27793)
  • prolonged interpeak latencies
  • decreased wave IV amplitude
  • mean wave IV threshold increased

Os/Os⁺

        involves: 101 * C3H

• embryogenesis phenotype
• abnormal limb bud morphology (MGI Ref ID J:5107)
  • retardation of the mesodermal growth in the preaxial area of the footplate of the forelimb buds is found at embryonic day 10 hour 16 and in the hindlimb buds at embryonic day 10 hour 21
  • although normal at early embryonic day 11, by embryonic day 11 to 12 there are cytolytic changes, cellular degeneration, in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments
• limbs/digits/tail phenotype
• abnormal limb bud morphology (MGI Ref ID J:5107)
  • retardation of the mesodermal growth in the preaxial area of the footplate of the forelimb buds is found at embryonic day 10 hour 16 and in the hindlimb buds at embryonic day 10 hour 21
  • although normal at early embryonic day 11, by embryonic day 11 to 12 there are cytolytic changes, cellular degeneration, in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments

Os/Os⁺

        involves: 101 * C3H * CBA/Gr

• lethality-prenatal/perinatal
• prenatal lethality (MGI Ref ID J:13049)
• limbs/digits/tail phenotype
• abnormal carpal bone morphology (MGI Ref ID J:13049)
  • ulnar end of the hamatum articulates with metacarpal 4, but does not reach metacarpal 5
  • metacarpal 5 is in a fixed state of abduction
• fused carpal bones (MGI Ref ID J:13049)
  • extensive fusions in carpus
• abnormal foot plate morphology (MGI Ref ID J:12942)
  • beginning at E11 the preaxial border of the foot plate is flattened, displaying an ovoid rather than circular outline
  • blastemata are crowded and small
  • interdigital area between digits 2 and 3 is reduced by E13
  • in most cases, digit 2 is formed closer to and may fuse to digit 3
• abnormal tarsus morphology (MGI Ref ID J:13049)
  • extensive and varied fusions in tarsus, which includes a solid fusion between talus and calcaneus
  • calcaneus frequently lacks process trochlearis
  • fusion occurs between the naviculare and a composite of cuneiforme 3 and cuboideum in all animals
  • naviculare is narrow as compared to wildtype
  • long axis of calcaneus and metararsalia are not parallel, as a result hindfeet point outward
• oligodactyly (MGI Ref ID J:13049)
  • digits 2 and 3 are typically involved
  • different digits in the same foot can be both polydactylous and oligodactylous
  • digit loss arises by fusion of digits 2 and 3, however, digit 2 is often thinner than normal and may vanish without fusion to digit 3
• polydactyly (MGI Ref ID J:13049)
  • exhibited in the hindfeet of some animals
  • different digits in the same foot can be both polydactylous and oligodactylous
• polysyndactyly (MGI Ref ID J:13049)
  • exhibited in some animals
• syndactyly (MGI Ref ID J:13049)
  • all four feet are affected, although the forefeet are less severely affected than the hindfeet
  • syndactylism primarily involves digits 2 and 3
  • nearly all animals exhibit osseous fusions of the bases of metacarpalia or metatarsalia 4 and 5
  • some animals exhibit fusion of metatarsalia 1 and 2
  • most fusions are secondary, only a few of the fusions are primary hard tissue in both embryo and adult
  • in the tarsus, only the cuneiforme 3 and cuboideum fusion is primary
  • hard tissue fusions start at the basal phalanges and spread distally
  • all fusions between metacarpal and metatarsals are secondary
• polysyndactyly (MGI Ref ID J:13049)
  • exhibited in some animals
• skeleton phenotype
• abnormal carpal bone morphology (MGI Ref ID J:13049)
  • ulnar end of the hamatum articulates with metacarpal 4, but does not reach metacarpal 5
  • metacarpal 5 is in a fixed state of abduction
• fused carpal bones (MGI Ref ID J:13049)
  • extensive fusions in carpus
• abnormal tarsus morphology (MGI Ref ID J:13049)
  • extensive and varied fusions in tarsus, which includes a solid fusion between talus and calcaneus
  • calcaneus frequently lacks process trochlearis
  • fusion occurs between the naviculare and a composite of cuneiforme 3 and cuboideum in all animals
  • naviculare is narrow as compared to wildtype
  • long axis of calcaneus and metararsalia are not parallel, as a result hindfeet point outward
• embryogenesis phenotype
• abnormal embryonic tissue morphology (MGI Ref ID J:13049)
  • at E14 projections of digits 2 and 3 at the edge of the foot plate are closer together than wildtype and there is only a single basal phalanx common to both digits
  • at E14-5 cuneiforme 3 and cuboideum have fused to a single element and are elongated in a diagonal direction rather than circular
  • at E16 metacarpalia 4 and 5 are fused
• abnormal mesenchyme morphology (MGI Ref ID J:12942)
  • a reduction in the amount of mesenchyme in the preaxial area of the foot plate is observed by E13

Os/Os⁺

        ROP/GnLeJ

• renal/urinary system phenotype
• abnormal kidney morphology (MGI Ref ID J:3842)
  • renal mass is reduced by 38% in comparison to wild-type
  • in nephrectomized heterozygote males, compensatory kidney growth is reduced in comparison to control
• abnormal kidney collecting duct (MGI Ref ID J:3842)
  • the principal cell type in the collecting duct is hypertrophied, with the greatest degree of hypertrophy in the nephrectomized heterozygotes
• abnormal renal glomerulus morphology (MGI Ref ID J:3842)
  • size of glomeruli is slightly increased in left kidney following unilateral nephrectomy as compared to control
• decreased renal glomerulus number (MGI Ref ID J:3842)
  • midtranverse sections from the left kidney indicate that glomeruli density is reduced by 50% in heterozygotes
• abnormal renal tubule morphology (MGI Ref ID J:3842)
  • diameters of the proximal convoluted and straight tubules are increased in size as compared to wild-type
  • tubular epithelial cells are hypertrophied in both heterozyote and nephrectomized heterozygotes, however, the magnitude of hypertrophy is increased in unaltered mice
• abnormal proximal convoluted tubule morphology (MGI Ref ID J:3842)
  • segments of proximal tubule, especially pars recta, exhibit hypertrophy
• polyuria (MGI Ref ID J:3842)
  • rate of urine flow is increased in heterozygotes as compared to controls, however glomerular filtration rate is not affected
  • excretion of creatinine, sodium and potassium is similar to control
• homeostasis/metabolism phenotype
• increased blood urea nitrogen level (MGI Ref ID J:3842)
  • BUN levels are increased by almost 50% in both heterozyote and nephrectomized heterozygotes as compared to controls

View Research Applications

Research Applications

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

Large^myd related

Neurobiology Research
Neuromuscular Defects

Os related

Developmental Biology Research
Skeletal Defects

Internal/Organ Research
Kidney Defects (diabetes insipidus)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Largemyd
Allele Name		myodystrophy
Allele Type		Spontaneous
Common Name(s)		Largemyd; fg; froggy; myd;
Strain of Origin		STOCK Edn3
Gene Symbol and Name		Large, like-glycosyltransferase
Chromosome		8
Gene Common Name(s)		BPFD#36; KIAA0609; MDC1D; Mbp-1; Mbp1; enervated; enr; fg; froggy; mKIAA0609; myd; myelin basic protein transgene; myodystrophy;
Molecular Note		The mutation underlying the myodystrophy phenotype has been determined to be an intragenic deletion in the glycotransferase gene, Large. The deletion of exons 5-7 cause a frameshift and a premature stop codon before the first two catalytic domains. [MGI Ref ID J:69796]
Allele Symbol		Os
Allele Name		Os
Allele Type		Radiation induced
Strain of Origin		(101 x C3H)F1
General Note		This mutation arose in an irradiation experiment and was probably X-ray induced. Homozygotes die by the fifth day of embryonic life, shortly after the 64-cell stage, as a result of abnormalities occurring during the seventh and eighth divisions (J:5017).There is a very high mitotic index, more than a third of the cells containing mitotic figures. Os in homozygotes may exert its primary effect on the mitotic apparatus (J:5768). Heterozygotes are affected on all four feet. Fusion usually occurs between the second and third digits and occasionally involves the fourth (J:13049). The muscles of the forearms and lower legs as well as of the feet show anomalous arrangements not necessarily correlated with the skeletal changes (J:12944). At 11 days of gestation the preaxial border of the limbs can be seen to be reduced (J:12942), and a histological examination at this time shows that there is a small amount of cellular degeneration in the preaxial part of the footplate mesoderm, leading to coalescence of thesecond and third digital rudiments (J:5107). Os /+ mice have a mild diabetes insipidus present at 5 weeks and increasing with age. In combination with one or more recessive modifying genes in the selected DI stock, Os/+ mice have a severe diabetes insipidus (J:12948). The cause of the diabetes is a 45% reduction in size of the kidneys with an 80% reduction in number of glomeruli. Compensatory hypertrophy of the nephrons is not sufficient to restore normal urine-concentrating ability (J:5127)(J:5128). Itis not known how the kidney and foot defects are related, or how either is related to the early death of the homozygote.
Molecular Note		The oligosyndactylism mutation is due to a chromosomal inversion that has breakpoints approximately 10 Mb apart. One breakpoint appears to reside in the Anapc10 gene, and an aberrant transcript consisting of part of Anapc10 and an unrelated sequence is expressed at low levels. [MGI Ref ID J:81567] [MGI Ref ID J:95333]

Genotyping

Genotyping Information

Genotyping Protocols

Large^myd, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Lane PW; Beamer TC; Myers DD. 1976. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 67(3):135-8. [PubMed: 939913]  [MGI Ref ID J:5670]

Pravtcheva DD; Wise TL. 1996. A transgene-induced mitotic arrest mutation in the mouse allelic with Oligosyndactylism. Genetics 144(4):1747-56. [PubMed: 8978060]  [MGI Ref ID J:38877]

Pravtcheva DD; Wise TL. 2001. Disruption of Apc10/Doc1 in three alleles of oligosyndactylism. Genomics 72(1):78-87. [PubMed: 11247669]  [MGI Ref ID J:81567]

Large^myd related

Barresi R; Michele DE; Kanagawa M; Harper HA; Dovico SA; Satz JS; Moore SA; Zhang W; Schachter H; Dumanski JP; Cohn RD; Nishino I; Campbell KP. 2004. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10(7):696-703. [PubMed: 15184894]  [MGI Ref ID J:91681]

Beedle AM; Nienaber PM; Campbell KP. 2007. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem 282(23):16713-7. [PubMed: 17452335]  [MGI Ref ID J:122734]

Grewal PK; Holzfeind PJ; Bittner RE; Hewitt JE. 2001. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 28(2):151-4. [PubMed: 11381262]  [MGI Ref ID J:69796]

Holzfeind PJ; Grewal PK; Reitsamer HA; Kechvar J; Lassmann H; Hoeger H; Hewitt JE; Bittner RE. 2002. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. Hum Mol Genet 11(21):2673-87. [PubMed: 12354792]  [MGI Ref ID J:79438]

Kanagawa M; Michele DE; Satz JS; Barresi R; Kusano H; Sasaki T; Timpl R; Henry MD; Campbell KP. 2005. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett 579(21):4792-6. [PubMed: 16098969]  [MGI Ref ID J:101333]

Lane PW. 1969. Froggy (fg) renamed myd - myodystrophy Mouse News Lett 40:30.  [MGI Ref ID J:64437]

Lane PW. 1974. fg changed to myd. Mouse News Lett 50:43.  [MGI Ref ID J:14773]

Lane PW; Beamer TC; Myers DD. 1976. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 67(3):135-8. [PubMed: 939913]  [MGI Ref ID J:5670]

Lee Y; Kameya S; Cox GA; Hsu J; Hicks W; Maddatu TP; Smith RS; Naggert JK; Peachey NS; Nishina PM. 2005. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 30(2):160-72. [PubMed: 16111892]  [MGI Ref ID J:100214]

Levedakou EN; Chen XJ; Soliven B; Popko B. 2005. Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects. Mol Cell Neurosci 28(4):757-69. [PubMed: 15797722]  [MGI Ref ID J:96939]

Mathews KD; Mills KA; Bailey HL; Schelper RL; Murray JC. 1995. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve Suppl(2):S98-102. [PubMed: 7739634]  [MGI Ref ID J:26061]

Mathews KD; Rapisarda D; Bailey HL; Murray JC; Schelper RL; Smith R. 1995. Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 54(4):601-6. [PubMed: 7602333]  [MGI Ref ID J:27793]

Michele DE; Barresi R; Kanagawa M; Saito F; Cohn RD; Satz JS; Dollar J; Nishino I; Kelley RI; Somer H; Straub V; Mathews KD; Moore SA; Campbell KP. 2002. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418(6896):417-22. [PubMed: 12140558]  [MGI Ref ID J:86900]

Mobley BA. 1985. Ca2+ capacity and uptake rate in skinned fibers of myodystrophic muscle. Exp Neurol 87(1):137-46. [PubMed: 3155690]  [MGI Ref ID J:7713]

Neymark MA; Kopacz SJ; Lee CP. 1980. Characterization of ATPase in sarcoplasmic reticulum from two strains of dystrophic mice. Muscle Nerve 3(4):316-25. [PubMed: 6447833]  [MGI Ref ID J:6379]

Nutting DF; MacPike AD; Meier H. 1980. The calcium content of various tissues from myodystrophic and dystrophic mice. J Hered 71:15-18.  [MGI Ref ID J:12034]

Qu Q; Crandall JE; Luo T; McCaffery PJ; Smith FI. 2006. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci 23(11):2877-86. [PubMed: 16819976]  [MGI Ref ID J:111600]

Rayburn HB; Peterson AC. 1978. Naked axons in myodystrophic mice. Brain Res 146(2):380-4. [PubMed: 647395]  [MGI Ref ID J:5974]

Reed PW; Mathews KD; Mills KA; Bloch RJ. 2004. The sarcolemma in the Large(myd) mouse. Muscle Nerve 30(5):585-95. [PubMed: 15389724]  [MGI Ref ID J:104941]

Rurak J; Noel G; Lui L; Joshi B; Moukhles H. 2007. Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Large(myd) mouse. J Neurochem 103(5):1940-53. [PubMed: 17803675]  [MGI Ref ID J:128697]

Os related

Elliot SJ; Karl M; Berho M; Potier M; Zheng F; Leclercq B; Striker GE; Striker LJ. 2003. Estrogen deficiency accelerates progression of glomerulosclerosis in susceptible mice. Am J Pathol 162(5):1441-8. [PubMed: 12707027]  [MGI Ref ID J:83190]

Esposito C; He CJ; Striker GE; Zalups RK; Striker LJ. 1999. Nature and severity of the glomerular response to nephron reduction is strain-dependent in mice. Am J Pathol 154(3):891-7. [PubMed: 10079267]  [MGI Ref ID J:53353]

Falconer DS; Latyszewski M; Isaacson JH. 1964. Diabetes insipidus associated with oligosyndactylism in the mouse. Genet Res 5:473-488.  [MGI Ref ID J:12948]

Gruneberg H. 1956. Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet 54:113-145.  [MGI Ref ID J:13049]

Gruneberg H. 1961. Genetical studies on the skeleton of the mouse. XXVII. The development of oligosyndactylism. Genet Res 2:33-42.  [MGI Ref ID J:12942]

He C; Esposito C; Phillips C; Zalups RK; Henderson DA; Striker GE; Striker LJ. 1996. Dissociation of glomerular hypertrophy, cell proliferation, and glomerulosclerosis in mouse strains heterozygous for a mutation (Os) which induces a 50% reduction in nephron number. J Clin Invest 97(5):1242-9. [PubMed: 8636436]  [MGI Ref ID J:32764]

He C; Zalups RK; Henderson DA; Striker GE; Striker LJ. 1995. Molecular analysis of spontaneous glomerulosclerosis in Os/+ mice, a model with reduced nephron mass. Am J Physiol 269(2 Pt 2):F266-73. [PubMed: 7544540]  [MGI Ref ID J:28323]

Jarad G; Lakhe-Reddy S; Blatnik J; Koepke M; Khan S; El-Meanawy MA; O'Connor AS; Sedor JR; Schelling JR. 2004. Renal phenotype is exacerbated in Os and lpr double mutant mice. Kidney Int 66(3):1029-35. [PubMed: 15327396]  [MGI Ref ID J:102341]

Kadam KM. 1962. Genetical studies on the skeleton of the mouse. XXXI. The muscular anatomy of syndactylism and oligosyndactylism. Genet Res 3:139-156.  [MGI Ref ID J:12944]

McLaren A. 1976. Genetics of the early mouse embryo. Annu Rev Genet 10:361-88. [PubMed: 797312]  [MGI Ref ID J:5768]

Milaire J. 1967. Histochemical observations on the developing foot of normal, oligosyndactylous (Os-plus) and syndactylous (sm-sm) mouse embryos. Arch Biol (Liege) 78(2):223-88. [PubMed: 4305644]  [MGI Ref ID J:5107]

Muhlfeld AS; Spencer MW; Hudkins KL; Kirk E; LeBoeuf RC; Alpers CE. 2004. Hyperlipidemia aggravates renal disease in B6.ROP Os/+ mice. Kidney Int 66(4):1393-402. [PubMed: 15458432]  [MGI Ref ID J:102315]

Naik DV; Valtin H. 1969. Hereditary vasopressin-resistant urinary concentrating defects in mice. Am J Physiol 217(4):1183-90. [PubMed: 5824320]  [MGI Ref ID J:5127]

Ovsepian SV; Friel DD. 2008. The leaner P/Q-type calcium channel mutation renders cerebellar Purkinje neurons hyper-excitable and eliminates Ca2+-Na+ spike bursts. Eur J Neurosci 27(1):93-103. [PubMed: 18093175]  [MGI Ref ID J:132196]

Pravtcheva DD; Wise TL. 2001. Disruption of Apc10/Doc1 in three alleles of oligosyndactylism. Genomics 72(1):78-87. [PubMed: 11247669]  [MGI Ref ID J:81567]

Sorenson CM; Rogers SA; Hammerman MR. 1996. Abnormal renal development in the Os/+ mouse is intrinsic to the kidney. Am J Physiol 271(1 Pt 2):F234-8. [PubMed: 8760267]  [MGI Ref ID J:34503]

Stewart AD; Stewart J. 1969. Studies on syndrome of diabetes insipidus associated with oligosyndactyly in mice. Am J Physiol 217(4):1191-8. [PubMed: 4309975]  [MGI Ref ID J:5128]

Van Valen P. 1966. Oligosyndactylism, an early embryonic lethal in the mouse. J Embryol Exp Morphol 15(2):119-24. [PubMed: 4289631]  [MGI Ref ID J:5017]

Wise TL; Pravtcheva DD. 2004. Oligosyndactylism mice have an inversion of chromosome 8. Genetics 168(4):2099-112. [PubMed: 15611179]  [MGI Ref ID J:95333]

Zalups RK. 1993. The Os/+ mouse: a genetic animal model of reduced renal mass. Am J Physiol 264(1 Pt 2):F53-60. [PubMed: 8430831]  [MGI Ref ID J:3842]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Untyped from the colony
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.

General Terms and Conditions

See Terms of Use

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.

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Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.