Table 1. Identification of a point... | Rockefeller University Press

Table 1.

Identification of a point mutation in the Bcl2 gene on Chr1 as the causative mutation for the WE phenotype

Mouse ID number	Phenotype		Mutations
			Arg2	Bcl2^{^a}	Erbp4	Lama1	Naip2	Satb2	Slc15a2
			chr12:80248736	chr1:108609405^{^a}	chr1:68607208	chr17:68102223	chr13:1000931864	chr1:56907005	chr16:36772531
	Lymphopenia	Depigmentation	A → T	T → C^{^a}	G → A	G → A	A → T	G → A	A → G
9610	Yes	Yes	-	Yes^{^a}	Yes^{^a}	No^{^b}	No^{^b}	Yes^{^a}	-
9184	No	No	No^{^a}	No^{^a}	Yes^{^b}	Yes^{^b}	Yes^{^b}	No^{^a}	Yes^{^b}
9564	Yes	Yes	No^{^b}	Yes^{^a}	-	No^{^b}	No^{^b}	-	-
9611	Yes	Yes	-	Yes^{^a}	No^{^b}	No^{^b}	No^{^b}	-	Yes^{^a}
9559	Yes	Yes	Yes^{^a}	Yes^{^a}	No^{^b}	No^{^b}	No^{^b}	-	-
9607	Yes	Yes	No^{^b}	Yes^{^a}	-	-	No^{^b}	No^{^b}	Yes^{^a}

Mouse ID number	Phenotype		Mutations
			Arg2	Bcl2^{^a}	Erbp4	Lama1	Naip2	Satb2	Slc15a2
			chr12:80248736	chr1:108609405^{^a}	chr1:68607208	chr17:68102223	chr13:1000931864	chr1:56907005	chr16:36772531
	Lymphopenia	Depigmentation	A → T	T → C^{^a}	G → A	G → A	A → T	G → A	A → G
9610	Yes	Yes	-	Yes^{^a}	Yes^{^a}	No^{^b}	No^{^b}	Yes^{^a}	-
9184	No	No	No^{^a}	No^{^a}	Yes^{^b}	Yes^{^b}	Yes^{^b}	No^{^a}	Yes^{^b}
9564	Yes	Yes	No^{^b}	Yes^{^a}	-	No^{^b}	No^{^b}	-	-
9611	Yes	Yes	-	Yes^{^a}	No^{^b}	No^{^b}	No^{^b}	-	Yes^{^a}
9559	Yes	Yes	Yes^{^a}	Yes^{^a}	No^{^b}	No^{^b}	No^{^b}	-	-
9607	Yes	Yes	No^{^b}	Yes^{^a}	-	-	No^{^b}	No^{^b}	Yes^{^a}

Whole-exome sequencing was performed on the DNA of one ENU-198 G5 mouse displaying the WE phenotype. All the mutations that were also found in six other mice from other pedigrees in our ENU mutagenesis program were excluded. The seven homozygous point mutations, which were selectively found in the WE mouse, are presented in this table. To identify the mutation responsible for the WE phenotype, we analyzed the presence of these mutations in other ENU-198 G5 animals displaying (for mice 9610, 9564, 9611, 9559, and 9607) or not displaying (9184) the WE phenotype (lymphopenia and hair hypopigmentation). The homozygous mutation in the Bcl2 gene (A1463G) is the only one, which was strictly associated with the WE phenotype. The whole Bcl2 gene was also sequenced in another WE mutant mouse. The A1463G mutation was the only mutation present in the Bcl2 gene.

Genotypes for the indicated genes and WE phenotype are consistent.

Genotypes for the indicated genes and WE phenotype are discordant.

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