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Sox18Ra
Spontaneous Allele Detail
Nomenclature
Symbol: Sox18Ra
Name: SRY (sex determining region Y)-box 18; ragged
MGI ID: MGI:1856135
Synonyms: Ra
Gene: Sox18  Location: Chr2:181669837-181671640 bp, - strand  Genetic Position: Chr2, 103.71 cM
Mutation
origin
Strain of Origin:  Translocation stock
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA deletion of a cytosine residue introduced a frameshift mutation affecting amino acids downstream of 314. Translation was prematurely stopped at codon 435. The deleted nucleotide was reported as nucleotide 960 in J:61488 and as nucleotide 938 in J:74211 and J:83731. (J:61488, J:74211, J:83731)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Sox18 Mutation:  10 strains or lines available
Notes
Sox18ra, ragged, semidominant. Arose spontaneously in a crossbred stock. In heterozygotes the first coat develops a little more slowly than normal. The coat contains guard hairs and awls but no auchenes and very few zigzags. This gives the coat a thin ragged appearance. The agouti pattern is modified, the entire coat being unusually dark. Heterozygotes are normally viable and fertile. Homozygotes are almost completely naked. Many are edematous at birth, and almost all die before weaning. A few survive and may breed (J:86). Developmental studies have shown that in Sox18ra/+ mice, growth of the late differentiating hair follicles which produce auchenes and zigzags is very retarded or arrested (J:12991). A low percentage of Sox18ra/+ mice in some stocks were found by Herbertson and Wallace (J:13089) to have a white chylous fluid in the abdomen from shortly after birth until a week or so of age. The incidence of chylous ascites in these mice is affected by one or more genes unlinked to Sox18Ra, and also by two mutant genes linked to Sox18Ra, (fi, we) and one on a different chromosome (py, Chr 1) (J:6220).

The phenotypes of Sox18Ra and Sox18ra-J have been described as indistinguishable (J:51188).

References
Original:  J:86 Carter TC, et al., Ragged, a semidominant coat texture mutant. J Hered. 1954;45:151-154
All:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory