Primary Identifier | MGI:1856399 | Allele Type | Spontaneous |
Gene | Col11a1 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6Fr | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The Col11a1 gene is disrupted in this naturally occurring mutation, chondrodysplasia (cho). Linkage studies map Col11a1 to the same region of Chr 3 as the cho mutation. There is a single nucleotide (C) deletion in the Col11a1 gene downstream of the translation initiation codon in mRNA from cho homozygotes; this disrupts the reading frame of the mRNA and introduces a premature stop codon. |