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Allele : Sox18<Ra> SRY (sex determining region Y)-box 18; ragged

Primary Identifier  MGI:1856135 Allele Type  Spontaneous
Gene  Sox18 Inheritance Mode  Semidominant
Strain of Origin  Translocation stock Is Recombinase  false
Is Wild Type  false
description  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).

molecularNote  A 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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Ra,
  • Ra
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

9 Carried By

0 Driven By

15 Publication categories