Table 3.

Mouse models mutating the orthologs of genes mutated or expected to be mutated in human SCN. For all rows, the symbol of the mouse orthologous gene is identical to the human symbol except that letters after the first are upper case for human become lower case for mouse (e.g., human HAX1 is orthologous to mouse Hax1). Unlike CGD and LAD, the mouse models for SCN are not necessarily neutropenic, so we note the phenotype correspondence in the rightmost column. In several cases of syndromic phenotypes, the papers describing the mice make no mention of neutrophil counts. The genes are listed in the order of the first publication year for a mouse model related to each gene, with ties broken arbitrarily.

Gene	Human mutations/inheritance	Mouse mutation	Reference for mouse model	Are mice neutropenic?
CSF3	None?	Null	49	Yes
CSF3R	Somatic mutations only(?)	Null	42	Yes
LYST	Biallelic/recessive	Null? (beige)	50	No?
LYST	Biallelic/recessive	Skip exon 25 (grey)	51	No?
ELA2	Heterozygous/dominant	Null	52	No, but neutrophil function is aberrant
ELA2	Heterozygous mutations/dominant	V72M heterozygous knock-in	53	No
ELA2	Heterozygous mutations/dominant	G193X heterozygous or homozygous knock-in	54	No, but SCN can be induced by a proteasome inhibitor
AP3B1	Biallelic/recessive	Null (pearl)	55	No
AP3B1	Biallelic/recessive	Null (bullet gray)	56	No
RAB27A	Biallelic/recessive	Null (ashen)	57	Yes, after LCMV infection48
GFI1	Heterozygous/dominant negative	Null	58,59	Yes
GFI1	Heterozygous/dominant negative	N382S retrovirally induced in cultured cells	60	Granulopoiesis blocked, but no ANC measured since this model is in vitro only
SLC37A4	Biallelic/recessive	Null	61	Yes
SLC37A4	Biallelic/recessive	Null + cell transfer	62	Yes
G6PC3	Biallelic/recessive	Null	63	Yes
HAX1	Biallelic/recessive	Null	64	No
TAZ	X-linked	Knock down by RNAi	65	Some animals