Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  19
• Reference
  J:93033 Lu Y, et al., Scd1( ab-Xyk): a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse. Mol Genet Genomics. 2004 Sep;272(2):129-37
• ID
  MGI:3581693

Genes

Gene	Assay Type
Scd1	SSCP
D19Mit90	PCR
D19Mit10	PCR

Notes

• Experiment
  The Kunming mutant, which exhibits hair and skin defects, was bred to either BALB/cAn or DBA/2J and then backcrossed to the Kunming mutant for mapping analysis. 529 animals from the BALB/cAn and DBA/2J backcross populations were genotyped at 158 polymorphic loci for linkage analysis. The mutant phenotype was mapped to a 6 cM interval on distal mouse Chromosome 19 between D19Mit90 (41 cM) and D19Mit10 (47 cM).
  
  Scd1 (43 cM) maps to the Kunming locus and recessive mutations in Scd1 are known to cause skinand hair defects. Single strand conformational polymorphism (SSCP) analysis and sequencing of Scd1 PCR products revealed a CCC trinucleotide insertion at position 835 of exon 5. The CCC insertion results in an extra proline residue at amino acid 279. Scd1 was also investigated as a candidate gene by complementation analysis. Kunming animals were crossed to ABJ/Le-Scd1^ab-J and resulting offspring all exhibited skin and hair anomalies. Therefore, Kunming and Scd1^ab-J are non-complementing and result from mutations within Scd1. The Kunming mutation is designated Scd1^ab-Xyk.