The semidominant oligosyndactlism (Os) mutation is maintained in repulsion with the spontaneous mutation myodystrophy(Largemyd). Myodystrophy (myd) is a spontaneous mutation in Large (like-glycosyltransferase), a glycosyltransferase involved in the glycosylation of alpha-dystroglycan. Mice homozygous for the mutation exhibit diffuse and progressive myopathy, as well as hearing loss and retinal abnormalities. This allele may be useful for studying congenital muscular dystrophy with brain and eye abnormalities (MDDGA6). Mice heterozygous for oligosyndactlism (Os) exhibit fused digits in all four feet and small kidney size.
|Allele Type||Gene Symbol||Gene Name|
|Allele Type||Gene Symbol||Gene Name|
Large (like-glycosyltransferase) encodes a glycosyltransferase involved in the glycosylation of alpha-dystroglycan. Mutations in LARGE are associated with congenital muscular dystrophy with brain and eye abnormalities (MDDGA6). Mice homozygous for the myodystrophy (myd) allele exhibit a short, shuffling gait, kyphosis, diffuse and progressive myopathy, myositis, cardiomyopathy and a reduced lifespan (average 17.25 weeks). Skeletal muscle pathologies include variation in fiber size, loss of striation, centralized nuclei, calcification and nuclear rowing. Other characteristics include hearing loss, disorganized retinal layers, and axon demyelination in the peripheral nervous system.
Mice heterozygous for oligosyndactlism (Os) exhibit fused digits in all four feet, progressive diabetes, small kidney size and reduced numbers of kidney glomeruli. Homozygotes are embryonic lethal.The semidominant oligosyndactlism (Os) mutation is maintained in repulsion with the spontaneous mutation myodystrophy(Largemyd).
Myodystrophy (Largemyd) 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 Largemyd/+ 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 Largemyd/+ and the strain was maintained by sibling matings selecting the Os phenotype which was generally Os +/+ Largemyd. It was cryopreserved in 1981 by mating Os +/+ Largemyd males at N7F22 -F27 to non Os (+ +/+ ?) females.
|Allele Synonym(s)||Largemyd; fg; froggy; myd|
|Gene Symbol and Name||Large, like-glycosyltransferase|
|Gene Synonym(s)||BPFD#36; MDC1D; MDDGA6; MDDGB6; Mbp-1; Mbp1; enervated; enr; enr; fg; fg; froggy; froggy; mKIAA0609; myd; myelin basic protein transgene; myodystrophy|
|Strain of Origin||STOCK Edn3 |
|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.|
|Allele Type||Radiation induced|
|Gene Symbol and Name||Os, oligosyndactylism|
|Gene Synonym(s)||94-A; 94-K; PlmTgN(Pgk1)1Ddp; PlmTgN(Pgk1)1Ddp; PlmTgN(Pgk1)2Ddp; PlmTgN(Pgk1)2Ddp; postimplantation lethal mutation induced by Pgk1 transgene insertion-Dimitrina D. Pravtcheva 1; postimplantation lethal mutation induced by Pgk1 transgene insertion-Dimitrina D. Pravtcheva 2|
|Strain of Origin||(101 x C3H)F1|
|General Note||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 the second 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).|
|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.|
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical).
The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to
ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery
will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the
genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the
recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of
interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny
testing at your facility. If you perform the progeny testing, there is no guarantee that a carrier will be identified.
If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female
(one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains
requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some
strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the
time taken to produce the mice identified as carrying the mutation. Please Customer Service for more information
on the cost of progeny testing for a strain.
Please note that identified 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. 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.
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