|  Help  |  About  |  Contact Us

Allele : Acan<cmd> aggrecan; cartilage matrix deficiency

Primary Identifier  MGI:1856465 Allele Type  Spontaneous
Gene  Acan Inheritance Mode  Recessive
Strain of Origin  STOCK T t<low> Itpr3<tf> Is Recombinase  false
Is Wild Type  false
molecularNote  The molecular lesion is a 7 bp deletion in exon 5. Reduced mRNA levels are seen. The mutation disrupts the coding region corresponding to the B subdomain of the N-terminal globular G1 domain of the encoded protein, and introduces a frame-shift resulting in a truncated protein, if expressed.
  • mutations:
  • Intragenic deletion
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

21 Publication categories