Lmx1b^tm1Rjo
Targeted Allele Detail

Summary

• Symbol: Lmx1b^tm1Rjo
• Name: LIM homeobox transcription factor 1 beta; targeted mutation 1, Randy L Johnson
• MGI ID: MGI:2158463
• Synonyms: Lmx1b-, Lmxb^neo
• Gene: Lmx1b Location: Chr2:33450977-33530620 bp, - strand Genetic Position: Chr2, 22.48 cM
• Alliance: Lmx1b^tm1Rjo page

Retarded development of the glomerular capillaries in Lmx1b^tm1Rjo/Lmx1b^tm1Rjo mice

Show the 6 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47316
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neomycin resistance cassette replaced about 5 kb of sequence including exons 3-7, which encode the second LIM domain, the homeodomain, and most of the carboxy-terminal region. RT-PCR analysis did not detect transcript from the region encoding the homeodomain in homozygous mutant 10 dpc embryos. (J:47316)

Disease models

Expression

In Mice Carrying this Mutation:	91 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	37 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Lmx1b Mutation: 16 strains or lines available

References

• Original: J:47316 Chen H, et al., Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998 May;19(1):51-5
• All: 39 reference(s)