A spontaneous deletion removed 138 kb, including exons 1-5 of Elmod1 and Tnfaip8l3. Western blot analysis confirmed the absence of protein expression in the brain. (J:187273)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count