Table 1 |.

Genetically engineered mouse models to study cancer or congenital disorders

Oncoprotein	Expression	Strain	Phenotype	Notes	Refs
KRAS	Pancreas	Pdx1–Cre, Ptf1–Cre, elastase–Cre; KrasG12D/G12V	PanIN	Develops PDAC on Tp53 deletion or pancreatitis; mice with KrasA146T fail to develop PanIN	16,43,62,167,168
	Lung	Adeno–Cre, CCSP–Cre; KrasG12D/G12V	Lung adenoma	Progression to adenocarcinoma	42,43,59,169
	Muscle	Adeno–Cre; KrasG12D	RT	Develops rhabdomyosarcoma when Tp53 is inactivated	60
	Myeloid cells	Mx1–Cre; KrasG12D/A146T	Myeloproliferative disorder	NR	16,170
	Intestinal epithelia	Fabp1–Cre; KrasG12D/A146T/G13D	Hyperplasia	Develops colon adenomas and adenocarcinoma on Apc loss	16,171,172
	Germline	KrasG12D/G12V	Lethal	Mice surviving germline KrasG12V recombination were found to be mosaic	42,43
	Germline (weak)	KrasV14I	Noonan syndrome	NR	150
HRAS	Bladder	Uroplakin II–HrasQ61L	Urothelial papillary tumours	NR	173
	Germline	HrasG12V	Costello syndrome	HRASG12V variant is uncommon in patients with Costello syndrome (lethal); papillomas and angiosarcomas are frequent in adults	174
	Germline (weak)	HrasG12S	Costello syndrome	NR	175
	Endothelial cells	Cdh5–tTA; tetO–HrasG12V	Cerebrovascular malformation	HRASG12V variant is uncommon in arteriovenous malformations	176
	Melanocytes	Tyr–HrasG12V	Melanoma	NR	177
NRAS	Melanocytes	Tyr–NrasQ61K	Melanoma	Cooperates with p16INK4A loss	93,178
	Myeloid cells	Mx1–Cre; NrasG12D	Indolent myeloproliferative disorder	NR	179
	Intestinal epithelia	Fabp1–Cre; NrasG12D	RT	Develops tumours on occurrence of DSS-induced colitis	171,180
RIT1	Germline	Rit1M90I, Rit1A57G	Noonan syndrome	NR	136,181
GNAQ	Melanoblast	Mitf–Cre; R26–GnaqQ209L	Uveal melanoma	NR	182
GNA11	Melanocyte	Tyr–CreER, R26–Gna11Q209L	Cutaneous, uveal and leptomeningeal melanoma	NR	183
GNAS	Transgenic	EF1-PGK–GnasR201H	Fibrous dysplasia	Human patients exhibit mosaicism	184
	Germline	Sox2–Cre; GnasR201H	Lethal	NR	146
	Limb bud	Prrx1–Cre;GnasR201H	Fibrous dysplasia	NR	146
RAF1	Germline	Raf1L613V	Noonan syndrome	NR	151
BRAF	Lung	Adeno–Cre; BrafV600E	Lung adenoma	Progression to adenocarcinoma	185
	Melanocytes	Tyr–CreER; BrafV600E	Melanocytic hyperplasia	NR	186
	Thyroid	Thyro–CreER; BrafV600E	Papillary thyroid carcinoma	NR	187
	Germline	BrafV600E	Lethal	NR	185
	Germline (weak)	BrafQ241R	Cardiofaciocutaneous syndrome	NR	188
	Pancreas	Pdx1–CreER; BrafV600E	PanIN	Develops PDAC on Tp53R270H mutation	189
	Intestinal epithelia	Villin–Cre; BrafV600E	Hyperplasia	NR	190
MEK1	Germline	Map2k1Y130C	Cardiofaciocutaneous syndrome	NR	191
PI3Kα	Mesoderm	T–CreER; Pik3caH1047R	Venous malformation	No overgrowth observed	137
	Ubiquitous	CAG–CreER; R26–Pik3caH1047R	Venous malformation	NR	136
	Endothelial cells	Tie2–Cre; Pik3caH1047R	Lethal	NR	41,136
	Neural progenitor	GFAP–Cre; Pik3caH1047R	Megalencephaly–capillary malformation syndrome	NR	192
	Breast	MMTV–Cre, Wap1–Cre; Pik3caH1047R	Breast adenocarcinoma	NR	58,193
	Ubiquitous transgene	CAG–CreER; Pik3ca*	PIK3CA-related overgrowth spectrum	NR	153
	Pancreas	Ptf1–Cre; R26–Pik3caH1047R	PanIN	No PanIN when Pdx1–CreER is used	189,194
PI3Kδ	Germline	Pik3cdE1020K	Primary immunodeficiency	Pik3cdE1020K is equivalent to human PIK3CDE1021K	195
AKT1	Mosaic	R26–CreER; Akt1E17K	Proteus syndrome	NR	147
	Breast	MMTV–tTA; tetO–Akt1E17K	Mammary gland hyperplasia	NR	196
FGFR3	Germline	Fgfr3G380R	Achondroplasia	NR	197
	Epidermis	K5–Fgfr3S249C	Epidermal tumours	NR	198
	Bladder	Uroplakin II–Cre; Fgfr3K644E	RT	NR	199
KIT	Germline	KitV658Δ	Familial gastrointestinal stromal tumours	NR	200
ALK	Germline	Actb–Cre; AlkF1174L	RT	NR	201
	Neural crest	P0–Cre; AlkF1174L	Proliferation sympathetic ganglion progenitors	NR	202
	CD4+ cells	CD4–NPM/ALK	T cell lymphoma and plasma cell tumours	NR	203
	Lung	SPC–EML/ALK	Lung adenocarcinoma	NR	204
EGFR	Lung	CCSP–rtTA; tetO–EgfrL858R	Lung adenocarcinoma	Similar phenotype in EgfrΔL747-S752	205

ALK; anaplastic lymphoma kinase; DSS, dextran sodium sulfate; EGFR, epidermal growth factor receptor; NR, not reported; PanIN, pancreatic intraepithelial neoplasia; PDAC, pancreatic ductal adenocarcinoma; RT, resistant to transformation; tetO, tetracycline operator; tTA, tetracycline transactivator.