|Institutional Source||Beutler Lab|
|Gene Name||LIM homeobox transcription factor 1 beta|
|Synonyms||Icst, LMX1.2, GENA 191|
|Is this an essential gene?||Probably essential (E-score: 0.916)|
|Stock #||RF032 (G1)|
|Chromosomal Location||33560965-33640511 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA to TACATCTTGATGCCGTCCA at 33640489 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000043616 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041730]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmx1b||
(F):5'- TGAACGTTTTCCCCTCAGG -3'
(R):5'- CTGACAAGCAGGTGACAGGC -3'
(F):5'- TGGTCATTCCAGGGGTCC -3'
(R):5'- CGAGTAGCCGGTAGAGAGC -3'