Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

39 mutations affecting 33 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 39 of 39] per page Full List Export
	Source	Photo	Gene	Allele	Chr	Chr Loc	Coordinate	Mode of Inheritance	Phenotypic Category and and
1			Sppl2a	abra2	2	126890391-126933235 bp (-)	126920313	Autosomal Recessive (5;44) Autosomal Semidominant (1;4)	FACS central memory CD8 T cells in CD8 T cells - increased immune system T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased total IgE level - decreased
2			Atp11c	ambrosius	X	60223290-60592698 bp (-)	36608577	Unknown	anemia FACS B cells - decreased hematopoietic system homeostasis/metabolism immune system liver/biliary system
3			Col4a4	aoba	1	82448423-82586849 bp (-)	82535740	Unknown (1;0)	digestive/alimentary hearing/vestibular/ear renal/urinary system
4			Alms1	ares	6	85587531-85702753 bp (+)	85621275	Autosomal Recessive (1;5) Autosomal Semidominant (1;4)	Body Weight - increased Body Weight (Male) - increased growth/size
5			Alms1	ares2	6	85587531-85702753 bp (+)	85677990	Autosomal Recessive (7;58) Autosomal Semidominant (2;9)	30 Min. Insulin - increased 30 Min. Insulin (Male) - increased Fasting Insulin - increased Fasting Insulin (Female) - increased Fasting Insulin (Male) - increased Pfizer: DyMA-IR - increased Pfizer: HOMA Residual - increased Pfizer: HOMA Residual (Male) - increased Pfizer: HOMA-IR - increased
6			Adamts20	buckeye	15	94270163-94465418 bp (-)	94341087	Unknown (1;0)	pigmentation skin/coat/nails
7			Tyrp1	ca-los	4	80834123-80851719 bp (+)	80844868	Unknown (2;0) Autosomal Recessive (1;1)	immune system MCMV resistance pigmentation skin/coat/nails
8			Jak3	citron	8	71676296-71690575 bp (+)	71686976	Autosomal Recessive (6;33) Autosomal Semidominant (1;5)	cellular phenotype FACS B cells - increased FACS B:T cells - increased FACS B1b cells - decreased FACS CD8+ T cells - decreased FACS IgD+ B cell percentage - increased FACS IgM+ B cells - increased FACS macrophages - decreased hematopoietic system immune system
9			Rims4	diminutive	2	163859751-163918683 bp (-)	163864865	Autosomal Recessive (2;13)	Body Weight - decreased Body Weight (Male) - decreased growth/size
10			Alms1	fatty	6	85587531-85702753 bp (+)	85627934	Autosomal Dominant (1;1) Autosomal Recessive (16;118) Autosomal Semidominant (3;10)	30 min GTT hyperglycemic 30 Min. Insulin - increased 30 Min. Insulin (Female) - increased 30 Min. Insulin (Male) - increased Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased FACS CD11b+ DCs (gated in CD11c+ cells) - increased fasting hyperglycemia fasting hyperglycemia (female) Fasting Insulin - increased Fasting Insulin (Female) - increased Fasting Insulin (Male) - increased growth/size immune system NK cell response - decreased NK killing - decreased Pfizer: DyMA-IR - increased Pfizer: HOMA Residual - increased Pfizer: HOMA Residual (Female) - increased Pfizer: HOMA Residual (Male) - increased Pfizer: HOMA-IR - increased
11			Ptprc	fuchsia	1	138062861-138175708 bp (-)	138101041	Autosomal Recessive (17;235) Autosomal Semidominant (1;17)	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased immune system
12			Slc45a2	galak	15	11000721-11029233 bp (+)	11012667	Unknown	pigmentation skin/coat/nails
13			Cd22	gansu	7	30865402-30880342 bp (-)	30870105	Autosomal Recessive (7;42)	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B2 cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased immune system
14			Irf8	Gemini	8	120736358-120756694 bp (+)	120743883	Unknown (2;0)	cellular phenotype FACS CD8+ T cells - decreased immune system MCMV susceptibility response to injected CpG DNA - decreased
15			Ednrb	gus-gus	14	103814625-103844173 bp (-)	103820013	Autosomal Recessive (1;2)	lethality-postnatal pigmentation skin/coat/nails
16			Gk5	homer	9	96119362-96184608 bp (+)	96140656	Autosomal Recessive (9;60)	FACS CD4:CD8 - decreased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased immune system skin/coat/nails
17			Tg	ito	15	66670753-66850721 bp (+)	66766162	Unknown (1;0) Autosomal Recessive (3;18)	Body Weight - decreased Body Weight (Female) - decreased immune system OVA-specific IgE - increased
18			Lck	lockdown	4	129548349-129573641 bp (-)	129558127	Autosomal Recessive (13;68) Autosomal Semidominant (2;8)	FACS B:T cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased immune system post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - increased post-MCMV FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV
19			Tmprss6	masquerade	15	78439668-78468634 bp (-)	78468000	Unknown	hematopoietic system homeostasis/metabolism iron deficiency reproductive system skin/coat/nails
20			Myo5a	naoki	9	75071015-75223688 bp (+)	75161492	Autosomal Recessive (1;2)	behavior/neurological pigmentation skin/coat/nails
21			Adamts20	nidoking	15	94270163-94465418 bp (-)	94403445	Autosomal Recessive (1;12)	pigmentation skin/coat/nails
22			Nlrp3	Park2	11	59541568-59566955 bp (+)	59565128	Autosomal Dominant (1;4) Autosomal Semidominant (1;5)	immune system NALP3 inflammasome signaling defect NLRP3 inflammasome: low response
23			Nlrp3	Park7	11	59541568-59566955 bp (+)	59548010	Autosomal Recessive (1;3) Autosomal Semidominant (2;12)	immune system NALP3 inflammasome signaling defect NLRP3 inflammasome: low response OVA-specific IgE - increased
24			Nos3	paul	5	24364810-24384474 bp (+)	24372704	Autosomal Recessive (2;8)	DSS: sensitive day 7 immune system T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
25			Col6a2	piddling	10	76595762-76623630 bp (-)	76608106	Autosomal Recessive (2;12)	Body Weight - decreased Body Weight (Male) - decreased growth/size
26			Vldlr	r26	19	27216484-27254231 bp (+)	27245654	Unknown	vision/eye
27			Pik3r1	Rocket	13	101680563-101768217 bp (-)	101689444	Unknown (9;0)	FACS B1 cells - decreased FACS B1a cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells - decreased FACS B1b cells in B1 cells - increased FACS B2 cells - increased FACS B220 MFI - decreased FACS NK T cells - decreased immune system Pfizer: DyMA Residual - increased
28			Gk5	sean	9	96119362-96184608 bp (+)	96176237	Autosomal Recessive (9;82) Autosomal Semidominant (1;5)	Blood Pressure: HR Day 1 - increased FACS CD4:CD8 - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS naive CD8 T cells in CD8 T cells - decreased immune system skin/coat/nails
29			Ifnar1	shook	16	91485238-91507441 bp (+)	91499537	Autosomal Recessive (10;42)	dsDNA induced type I IFN production - decreased FACS B cells - decreased FACS B:T cells - decreased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS T cells - increased immune system impaired response to dsDNA- type I IFN production by macrophages
30			Myo5a	silver_decerebrate_2	9	75071015-75223688 bp (+)	75211127	Unknown	behavior/neurological lethality-postnatal life span-post-weaning/aging pigmentation skin/coat/nails
31			Oca2	snowflake	7	56239760-56536517 bp (+)	56324680	Unknown	pigmentation skin/coat/nails
32			Pcdh15	sphere	10	73099342-74649737 bp (+)	74624284	Autosomal Recessive (1;2)	behavior/neurological hearing/vestibular/ear
33			Fgf5	splinter	5	98254184-98277030 bp (+)	98261987	Autosomal Recessive (2;9)	FACS B220 MFI - decreased immune system skin/coat/nails
34			Mpz	taz	1	171150711-171161130 bp (+)	171158810	Autosomal Recessive (1;4)	behavior/neurological eye: optic nerve anomaly
35			Atp7a	Tigrou-like	X	106027276-106124926 bp (+)	106105250	Unknown	lethality-embryonic/perinatal pigmentation skin/coat/nails
36			Tub	troy	7	109010825-109034460 bp (+)	109020954	Autosomal Recessive (7;34)	adipose tissue Body Weight - increased Body Weight (DSS Female) - increased Body Weight (DSS Male) - increased Body Weight (DSS) - increased Body Weight (Female) - increased Circadian Final Body Weight - increased Circadian rhythm Circadian Tau Activity Onset - increased growth/size
37			Ptpn6	Vermeil	6	124720707-124738714 bp (-)	124732950	Autosomal Recessive (3;15) Autosomal Semidominant (6;34)	FACS B cells - decreased FACS B1 cells - increased FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - decreased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased immune system
38			Flt3	warmflash	5	147330741-147400489 bp (-)	147366918	Unknown (1;0)	FACS NK cells - decreased growth/size hematopoietic system immune system MCMV susceptibility NK cell response - decreased
39			Pax3	Widget	1	78101267-78197134 bp (-)	78122590	Unknown (1;0)	pigmentation skin/coat/nails
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