| Primary Identifier | MGI:3027342 | Allele Type | Chemically induced (ENU) |
| Attribute String | Hypomorph | Gene | Ift88 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| description | This allele is hypomorphic. The mutation causes abnormal embryonic morphology at mid-gestation (~E9.5). Homozygous mutant embryos had a weak neural phenotype: the floor plate was absent at most levels in the neural tube, whereas markers of V3 interneurons and motor neurons were expressed. Double heterozygous fxo/Ttc10tm1Rpw embryos die at E12.5-13.5 with morphology similar to that of fxo homozygotes. |
| molecularNote | This is a recessive ENU mutation identified in a screen for morphological abnormalities appearing at E9.5. Exon 16 of the gene has been skipped in the transcripts from this hypomorphic allele, owing to a splice site mutation that changes exon/intron 16 splice donor site G-GT to G-GC, resulting in an in-frame deletion of 29 amino acids in the encoded peptide. This results in the loss of 1 out of 10 tetratricopeptide repeats. |
