Alx4Lst-2J heterozygotes are characterized by a short nose and preaxial polydactyly on one hind limb while perinatal death is common in homozygotes and those that survive are born with open eyes, have polydactyly on all four feet, dorsal alopecia, a short nose, wide-set eyes, and abnormalities in the frontal bones of the skull, which can include a large bulge in the anterior portion of the head. Homozygotes develop cataracts. Alx4Lst-2J/lst-J compound heterozygotes are born with open eyelids and polydactyly on all feet.
The Alx4Lst-2J mutation arose spontaneously in the C57BL/6J inbred strain at The Jackson Laboratory and has been maintained coisogenic on this background. Sperm was cryopreserved from heterozygous males.
|Allele Name||Strong's luxoid 2 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Alx4, aristaless-like homeobox 4|
|Strain of Origin||C57BL/6J|
|Molecular Note||The mutation is a a 33.4 Kb deletion encompassing the 5' region and exon 1 of the gene. Immunostaining of coronal sections of E14.5 embryo heads showed that no detectable protein is expressed from this allele.|