Lmx1a^mtl
Spontaneous Allele Detail

Summary

• Symbol: Lmx1a^mtl
• Name: LIM homeobox transcription factor 1 alpha; mutanlallemand
• MGI ID: MGI:5423987
• Gene: Lmx1a Location: Chr1:167516806-167676310 bp, + strand Genetic Position: Chr1, 75.08 cM
• Alliance: Lmx1a^mtl page

Small size, shorter tails, and white belly patches in Lmx1a^bsd/Lmx1a^bsd and Lmx1a^mtl/Lmx1a^mtl mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: 129S5/SvEvBrd

Mutation description

Allele Type: Spontaneous Mutation: Single point mutation Mutation details: No coding sequence alterations were found, but a single G-to-A base pair change was identified in the first base of intron 4 that eliminates the exon 4 splice donor site by changing it from G-GT to G-AT. RT-PCR from samples derived from E10.5 embryos showed that in mutant homozygotes a 44 base pair extension of exon 4 into intron 4, was present that is predicted to result in an in-frame stop codon located immediately after exon 4 to be read and to terminate the translation of the encoded after 223 amino acids plus one altered amino acid. QRT-PCR confirmed reduced transcript expression at E10.5. (J:194385) Inheritance: Recessive

Diagram showing the Lmx1a^mtl and Lmx1a^bsd spontaneous mutations

Expression

In Structures Affected by this Mutation:

9 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 Lmx1a Mutation: 20 strains or lines available

References

• Original: J:194385 Steffes G, et al., Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects. PLoS One. 2012;7(11):e51065
• All: 1 reference(s)