Lmx1a^bsd
Spontaneous Allele Detail

Summary

• Symbol: Lmx1a^bsd
• Name: LIM homeobox transcription factor 1 alpha; belly spot and deafness
• MGI ID: MGI:5423982
• Gene: Lmx1a Location: Chr1:167516806-167676310 bp, + strand Genetic Position: Chr1, 75.08 cM
• Alliance: Lmx1a^bsd 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: Intragenic deletion Mutation details: The mutation is an intergenic deletion spanning approximately 13.48 Kb of the gene (7.89 Kb upstream and 5.36 Kb downstream of exon 3, inclusive). The mutation is predicted to cause a frameshift in the translation of the encoded protein resulting in truncation after 91 amino acids. 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:

7 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: 2 reference(s)