Supplementary Table 4 | Mutant alleles at the mottled mouse locus
Allele
Mutation in Atp7a
Mutant male phenotype
Mo-dappled1,2,3
1.8 kb deletion including exon 1 Embryonic lethal; bending and thickening
of the ribs, and distortion of the pectoral
and pelvic girdles and limb bones
3
Mo-3Btlr
I483T
Abnormal coat pigmentation
3
Mo-2Btlr
E496X
Embryonic lethal
Mo-candy3,4
81 base insertion in exon 10;
Embryonic lethal
produces abnormal splicing
Mo-blotchy1,2,5–7
IVS11, DS,+3, AC; disrupts
Viable at birth; premature death; abnormal
proper splicing but with some
morphology of aorta (aneurysms in >90%
normal transcripts produced;
by 6 months of age); pale coat color;
mutant Atp7a fails to traffic
tremors; hunched posture; hypoactivity;
from trans-Golgi to plasma
growth somewhat reduced; pulmonary
membrane in response to copper. emphysema
Mo-spot3,4
Deletion of exons 11–14;
Not reported
mutant transcript is
in frame and predicts a protein
lacking the phosphatase and fifth
transmembrane domains
Mo-brindled3,7–9
6 bp deletion in exon 11,
Nearly devoid of pigment except in the
removing two amino acids
eyes and ears; curled whiskers; slight
(A799L800); mutant Atp7a fails to tremor and uncoordinated gait; death
traffic from trans-Golgi to
usually occurs by 2 weeks of age;
plasma membrane in response to parenteral injection of copper at 7–10
copper
days restores viability but treatment
effects are background-dependent; on
C57BL6/J background, copper alone does
not rescue mice
Mo-1Pub3,6
IVS14, DS, +1, G to A
Embryonic lethal
3
Mo-Btlr
A994V
Perinatal lethal
3
Mo-pewter
A998T
Light gray coat pigmentation
Mo-viable
K1045T; mutant Atp7a localizes White coat color; reduced viability; aortic
brindled3,6,9,10
primarily to plasma membrane;
aneurysms; infertility
phosphorylation-dependent
Mo-11H3,6,12
A1364D; mutant Atp7a
Embryonic lethal
mislocalizes to endoplasmic
reticulum
Mo-Macular3,10,11
S1382P; mutant Atp7a localizes Similar to Mo-brindled; can be rescued by
primarily to plasma membrane;
parenteral copper
not phosphorylation-dependent
Mo-Tohm3,12
1440 bp deletion from intron 22 Embryonic lethal; yolk sac hemorrhage
to exon 23
with irregular attachment between
vascular endothelium and mesoderm
Mo-13H3,9
No mutation detected
Similar to Mo-brindled; dies by 14 days
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