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Ift88fxo
Chemically induced Allele Detail
Summary
Symbol: Ift88fxo
Name: intraflagellar transport 88; flexo
MGI ID: MGI:3027342
Synonyms: fxo, Ift88flexo, Ift88hypo, Ift88pol, polarisfxo
Gene: Ift88  Location: Chr14:57661519-57755393 bp, + strand  Genetic Position: Chr14, 30.1 cM
Alliance: Ift88fxo 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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/Ttc10tm1Rpw 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)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory