DNA Alteration Details

System ID: 152

Gene: NOR

Chromosome:

Variant Type: deletion, gross (>20)

Deleterious: yes

Year Discovered: 1994

Is Defect?: Yes

Mode of Inheitance: Autosomal Recessive Lethal

Reference Sequence:

Variant Source: Naturally occurring variant

Genomic or Mitochondrial:

Coding DNA Sequence or Genomic DNA Sequence:

Protein Sequence:

Reference Website: Visit website

Verbal Description: Embryos exhibiting a nucleolar phenotype of one large and one very small nucleolus (Pp) are heterozygous for a reduced rDNA cluster (+/p1) and were shown in the present study to contain about 66% of the complement of rRNA genes in normal individuals (+/+) that show two large equal-sized nucleoli (PP)""

Trait: Disease -> Disease: Ribosomal RNA deficiency

Breeds: Polymorphic Nucleolar (PNU) strain