Disorganization (Ds) is an exceptional mutation because of its diverse and profound developmental effects. Although other mouse mutations produce similar congenital defects, extreme pleiotropism, random occurrence, developmental independence of multiple defects, and type of anomaly make Ds unique. Examples of developmental defects include cranioschisis, rachischisis, thoracoschisis, exencephaly, hamartomas, and anomalies of appendages, digestive, genital and urinary tracts, sense organs, limbs and girdles, tail and pharynx. No other mutation in the mouse has such broad effects. This stock provides an important model for studying not only the genetic control of lineage determination and pattern formation, but also the occurrence of sporadic congenital defects. Homozygous mice are not more severely affected than heterozygotes. The Ds mutation is carried on this stock along with the dilute (Myo5ad) mutation affecting coat color.
Most homozygotes probably die in utero after implantation and before term. Heterozygotes are normal, deviate slightly, or deviate severely with multiple defects.
The mutation disorganization (Ds) arose spontaneously in the incipient inbred strain DA/Hu at F22 around 1957 at The Jackson Laboratory. The first mutant identified was a female that was then bred to her wild type brother and their mutant daughter was backcrossed to her wild type father. This pair bore mutant offspring and two females were outcrossed to DBA/1J. The mutant was then continually backcrossed to DBA/1J to generation N11 and then sister x brother bred, always mating a mutant phenotype to a wild type to F25. The penatrance of this mutation varied on different backgrounds. In 1974 the strain was outcrossed to 129/TerSv once (N1) and then sister x brother bred to F23. The strain was then referred to as a STOCK and inbreeding continued. It was cryopreserved in 1992 by mating a +/? females with Ds/+ to males at generation F23+F28.
|Allele Synonym(s)||blue dilution; d; dv; Maltese dilution|
|Gene Symbol and Name||Myo5a, myosin VA|
|Strain of Origin||old mutant of the mouse fancy|
|Molecular Note||This mutation is the result of the integration of ecotropic murine leukemia virus Emv-3 into a noncoding region of the Myo5ad gene. Reversions of Myo5ad to wild-type are caused by excision of the virus leaving exactly one long terminal repeat in place.|
|Gene Symbol and Name||Ds, disorganization|
|Strain of Origin||DA/Hu|
|General Note|| |
The Ds mutation arose spontaneously in the inbred DA/Hu strain at The Jackson Laboratory. Ds disrupts the orderly processes of development. Most homozygotes probably die in utero after implantation and before term (J:13012), but some may possibly be normal and viable (J:15709). Heterozygotes may be normal, may deviate slightly, or may be monstrous individuals with multiple defects (J:13012, J:2436).
|Molecular Note||The Ds mutation arose spontaneously in the inbred DA/Hu strain at The Jackson Laboratory.|
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