Axd
Spontaneous Allele Detail

Summary

• Symbol: Axd
• Name: axial defects
• MGI ID: MGI:1856670
• Gene: Axd Location: unknown Genetic Position: Chr15, Syntenic
• Alliance: Axd page

Mutation origin

• Strain of Origin: STOCK Cacna1s^mdg

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Viral insertion
• Mutation details:

  Whole genome sequencing identified the presence of an insertion of approximately 4 kb in the 5 UTR of Grhl2 which was identified to be a retrotransposon of the intracisternal A particle (IAP) family long terminal repeat (LTR) class, with significant sequence homology to regions of DF0004146.1 (IAPEz-Int) and DF0002788.2 (IAPLTR2) in the reverse orientation with respect to Grhl2. In addition to disruption of the Grhl2 promoter, the insertion lies within the locus of the lncRNA Gm16136, transcribed from the reverse strand with respect to Grhl2. RT-PCR of samples collected at E10.5 showed that isoforms 202 and 204 of Gm16136 were detected but isoforms 201 and 203 were not detected. qRT-PCR showed that Gm161136 is expressed at higher levels in homozygotes than in wild-type mice. (J:343442)

• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

5 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 Axd Mutation: 1 strain or line available

References

• Original: J:10783 Essien FB, et al., Expression of a new mutation (Axd) causing axial defects in mice correlates with maternal phenotype and age. Teratology. 1990 Aug;42(2):183-94
• All: 7 reference(s)