B6.Cg-Sgk3^fz H54 Mlph^ln/+ H54 +/J

Stock number: 000112
Research areas: Dermatology Research

Allele

Symbol: Mlph^ln
Name: leaden
MGI accession ID: MGI:1856674
Generation method: Spontaneous
Marker symbol: Mlph
Marker name: melanophilin
Chromosome: 1
Strain of origin: C57BR
Molecular note: This allele has a C-to-T transition at mRNA nucleotide position 266. This introduces a stop codon at arginine codon 31 (p.R31*) in the sequence of the normally spliced transcript and it also creates a new G-GT splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. Sequence analysis failed to detect any wild-type transcripts.

Allele

Symbol: Sgk3^fz
Name: fuzzy
MGI accession ID: MGI:1856038
Generation method: Spontaneous
Marker symbol: Sgk3
Marker name: serum/glucocorticoid regulated kinase 3
Chromosome: 1
Strain of origin: CFW stock
Molecular note: This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain.

Allele

MGI accession ID: MGI:96001
Marker symbol: H54
Marker name: histocompatibility 54
Chromosome: 1