|Institutional Source||Beutler Lab|
|Gene Name||ladybird homeobox 1|
|Is this an essential gene?||Probably essential (E-score: 0.878)|
|Stock #||R6869 (G1)|
|Chromosomal Location||45232684-45235812 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 45234951 bp|
|Amino Acid Change||Serine to Cysteine at position 93 (S93C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096997 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099401]|
|Predicted Effect||probably damaging
AA Change: S93C
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S93C
|Meta Mutation Damage Score||0.298|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lbx1||
(F):5'- AGCTTGGGTTCTCACACCTC -3'
(R):5'- GTTCAGCATCGAGGACATCC -3'
(F):5'- TCTCTCAGATCACCTCAGAGG -3'
(R):5'- TCCTCAACAAGCCGTCCGTG -3'