| Primary Identifier | MGI:1857729 | Allele Type | Targeted |
| Attribute String | Null/knockout | Gene | Hapln1 |
| Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
| Is Recombinase | false | Is Wild Type | false |
| description | Heterozygous mutant mice appear normal and are fertile. Homozygous mutant mice are runted (dwarfism) with a flat face and domed skull due to defects in cartilage development and delayed bone formation. The mutation appears to affect cranial bones derived from cartilage templates but not those from membranous ossification (J:52575). Collectively, the phenotypes are reminiscent of spondyloepiphyseal dysplasias. |
| molecularNote | A neomycin selection cassette was inserted into a BsgI site in exon 5 (reported as exon 4 in J:85802), causing premature truncation of the gene product. Western blot analysis on samples derived from homozygous mutant mice confirmed that no detectable encoded protein is produced from this allele. |
