Lmx1b^Icst
Chemically induced Allele Detail

Summary

• Symbol: Lmx1b^Icst
• Name: LIM homeobox transcription factor 1 beta; iris-corneal strands
• MGI ID: MGI:2178439
• Synonyms: Gena191, GENA 191
• Gene: Lmx1b Location: Chr2:33450977-33530620 bp, - strand Genetic Position: Chr2, 22.48 cM
• Alliance: Lmx1b^Icst page

Mutation origin

• Strain of Origin: BALB/cAnN
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at Harwell. A single nucleotide change, a T to A transversion in exon 5 (at position 2:33,566,910 in Ensembl Release 74 mouse assembly GRCm38) was identified which was absent from the reference mouse sequence and from an additional 17 mouse strains. This mutation causes the substitution of hydrophobic valine at position 242 with hydrophilic aspartic acid (p.V242D) in the homeodomain of the encoded protein. (J:215517)

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Lmx1b Mutation: 16 strains or lines available

Notes

Phenotypic model of human glaucoma (J:215517)

References

• Original: J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
• All: 6 reference(s)