|Institutional Source||Beutler Lab|
|Gene Name||arachidonate lipoxygenase 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7451 (G1)|
|Chromosomal Location||69125896-69149115 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 69142920 bp|
|Amino Acid Change||Threonine to Lysine at position 620 (T620K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021268 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021268]|
|Predicted Effect||possibly damaging
AA Change: T620K
PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T620K
|Coding Region Coverage||
|Validation Efficiency||100% (84/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality, imapired skin barrier function, dehydration, tightly packed stratum corneum, impaired stratum corneum desquamation and reduced levels of ester-bound ceramide in the epidermis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aloxe3||
(F):5'- CTGGGACTTTCCATAGTCACTCG -3'
(R):5'- GCAGTGGACATAAATCCCAGC -3'
(F):5'- CTCGTTTCTAAACTTTGAGATCTGG -3'
(R):5'- GTGGACATAAATCCCAGCGATTAGC -3'