Lmx1b<tm1Rjo> Targeted Allele Detail MGI Mouse (MGI:2158463)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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