Ift88^fxo
Chemically induced Allele Detail

Summary

• Symbol: Ift88^fxo
• Name: intraflagellar transport 88; flexo
• MGI ID: MGI:3027342
• Synonyms: fxo, Ift88^flexo, Ift88^hypo, Ift88^pol, polaris^fxo
• Gene: Ift88 Location: Chr14:57661519-57755393 bp, + strand Genetic Position: Chr14, 30.1 cM
• Alliance: Ift88^fxo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: 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. (J:86437)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ift88 Mutation: 48 strains or lines available

Notes

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/Ttc10^tm1Rpw embryos die at E12.5-13.5 with morphology similar to that of fxo homozygotes.

References

• Original: J:86437 Huangfu D, et al., Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature. 2003 Nov 6;426(6962):83-7
• All: 4 reference(s)