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Phenotypic Mutations

529 mutations affecting 266 genes are currently displayed.

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Mutations Mapped and Identified Based on Phenotype

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	Source UTSW APN	Photo Y N	Gene	Allele	Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y	Chr Loc	Coordinate	Mode of Inheritance Unknown Autosomal Codominant Autosomal Dominant Autosomal Recessive Autosomal Semidominant X-linked Recessive X-linked Dominant	Phenotypic Category extracellular cGAMP: high response extracellular cGAMP: low response adipose tissue anemia behavior/neurological cardiovascular system cellular phenotype craniofacial decrease in body weight defect in 125-03 response digestive/alimentary embryogenesis endocrine/exocrine gland growth/size hearing/vestibular/ear hematopoietic competition - disadvantage hematopoietic system homeostasis/metabolism immune system ....30 min GTT hyperglycemic ....30 min GTT hyperglycemic (male) ....30 min GTT hyperoglycemic (female) ....30 min GTT hypoglycemic ....30 min GTT hypoglycemic (female) ....30 min GTT hypoglycemic (male) ....adenovirus infection of macrophages- decreased ....adenovirus infection of macrophages- increased ....autoimmunity ....Blood pressure defect: decrease in DBP average ....Blood pressure defect: decrease in DBP Day 1 ....Blood pressure defect: decrease in DBP Day 2 ....Blood pressure defect: decrease in DBP Day 3 ....Blood pressure defect: decrease in HR average ....Blood pressure defect: decrease in HR day 1 ....Blood pressure defect: decrease in HR day 2 ....Blood pressure defect: decrease in HR day 3 ....Blood pressure defect: decrease in MBP average ....Blood pressure defect: decrease in MBP Day 1 ....Blood pressure defect: decrease in MBP Day 2 ....Blood pressure defect: decrease in MBP Day 3 ....Blood pressure defect: decrease in SBP average ....Blood pressure defect: decrease in SBP day 3 ....Blood pressure defect: increase in DBP average ....Blood pressure defect: increase in DBP Day 1 ....Blood pressure defect: increase in DBP Day 2 ....Blood pressure defect: increase in DBP Day 3 ....Blood pressure defect: increase in HR average ....Blood pressure defect: increase in HR day 1 ....Blood pressure defect: increase in HR day 2 ....Blood pressure defect: increase in HR day 3 ....Blood pressure defect: increase in MBP average ....Blood pressure defect: increase in MBP Day 1 ....Blood pressure defect: increase in MBP Day 2 ....Blood pressure defect: increase in MBP Day 3 ....Blood pressure defect: increase in SBP average ....Blood pressure defect: increase in SBP Day 1 ....Blood pressure defect: increase in SBP day 3 ....Circadian defect: decrease in body weight over wheel testing ....Circadian defect: decrease in circadian active phase duration ....Circadian defect: decrease in circadian blood glucose ....Circadian defect: decrease in circadian phase angle intercept ....Circadian defect: decrease in circadian power FFT ....Circadian defect: decrease in circadian tau activity onset ....Circadian defect: decrease in circadian tau DD by eye ....Circadian defect: decrease in final body weight ....Circadian defect: decrease in tau chi squared periodogram ....Circadian defect: decreased wheel revs/24H ....Circadian defect: increase in body weight over wheel testing ....Circadian defect: increase in circadian active phase duration ....Circadian defect: increase in circadian blood glucose ....Circadian defect: increase in circadian phase angle intercept ....Circadian defect: increase in circadian power FFT ....Circadian defect: increase in circadian tau activity onset ....Circadian defect: increase in circadian tau DD by eye ....Circadian defect: increase in final body weight ....Circadian defect: increase in tau chi squared periodogram ....Circadian defect: increase in wheel revs/24H ....Circadian rhythm ....decrease in 125-03 response ....decrease in B cells ....decrease in B:T cells ....decrease in B1 cells ....decrease in B1a cells ....decrease in B1a cells in B1 cells ....decrease in B1b cells ....decrease in B1b cells in B1 cells ....decrease in B2 cells ....decrease in B220 MFI in B cells ....decrease in body weight- female ....decrease in body weight- male ....decrease in CD11b+ DCs in CD11c+ cells ....decrease in CD11c+ DCs ....decrease in CD4:CD8 ....decrease in CD4+ T cells ....decrease in CD4+ T cells in CD3+ T cells ....decrease in CD44 MFI in CD4 ....decrease in CD44 MFI in CD8 ....decrease in CD44 MFI in T cells ....decrease in CD44+ CD4 T cells ....decrease in CD44+ CD8 T cells ....decrease in CD44+ T cells ....decrease in CD8 response ....decrease in CD8+ T cells ....decrease in CD8+ T cells in CD3+ T cells ....decrease in CD8a+ DCs in CD11c+ cells ....decrease in central memory CD4 T cells in CD4 T cells ....decrease in central memory CD8 T cells in CD8 T cells ....decrease in CTL killing dominant epitope ....decrease in CTL killing subdominant epitope ....decrease in dsDNA Antibody ....decrease in effector memory CD4 T cells in CD4 T cells ....decrease in effector memory CD8 T cells in CD8 T cells ....decrease in effector T cells ....decrease in IgA response to 2nd OVA/Alum Challenge (day 7) ....decrease in IgD MFI in B cells ....decrease in IgD+ B cells ....decrease in IgE response to a Cysteine Protease (Papain) ....decrease in IgG1 response to a Cysteine Protease (Papain) ....decrease in IgM MFI in B cells ....decrease in IgM+ B cells ....decrease in LPS-induced necroptosis ....decrease in macrophages ....decrease in memory T cells ....decrease in naive CD4 T cells in CD4 T cells ....decrease in naive CD8 T cells in CD8 T cells ....decrease in naive T cells ....decrease in neutrophils ....decrease in NK cell response ....decrease in NK cells ....decrease in NK T cells ....decrease in OVA-specific IgE ....decrease in OVA-specific IgE after 2nd OVA/Alum ....decrease in pDCs in CD11c+ cells ....decrease in phagocytosis in PECs ....decrease in ratio of OVA-specific IgE over the total IgE ....decrease in resistance to B10-F16 melanoma ....decrease in response to injected CpG DNA ....decrease in secretory SlgA after 2nd OVA/Alum Challenge (day 7) ....decrease in T cells ....decrease in total cholesterol ....decrease in total IgE after 2nd OVA/Alum ....decrease in total IgE after 2nd OVA/Alum Challenge (day 7) ....decrease in total IgE level ....decreased CTL killing ....decreased NK killing ....dsDNA induced type I IFN production: decreased ....dsDNA induced type I IFN production: increased ....DSS: resistant ....DSS: resistant day 10 ....DSS: resistant day 7 ....DSS: sensitive ....DSS: sensitive day 10 ....DSS: sensitive day 7 ....eye: cataract ....eye: chorioretinal lesions ....eye: corneal opacity ....eye: decrease in BM to ELM thickness ....eye: decrease in BM to ILM thickness ....eye: decrease in ILM to ONL thickness ....eye: decrease in ONL thickness ....eye: fundus spots ....eye: increase in BM to ELM thickness ....eye: increase in BM to ILM thickness ....eye: increase in ILM to ONL thickness ....eye: increase in ONL thickness ....eye: iris anomaly ....eye: keratouveitis ....eye: optic nerve anomaly ....eye: retinal cystic atrophy ....eye: retinal detachment ....eye: retinal vascular anomaly ....eye: vitreoretinal development anomaly (PHPV) ....fasting hyperglycemia ....fasting hyperglycemia (female) ....fasting hyperglycemia (male) ....fasting hyperinsulinemia ....fasting hyperinsulinemia (female) ....fasting hyperinsulinemia (male) ....fasting hypoglycemia ....fasting hypoglycemia (female) ....fasting hypoglycemia (male) ....fasting hypoinsulinemia ....fasting hypoinsulinemia (female) ....fasting hypoinsulinemia (male) ....high insulin levels after 30-minute glucose challenge (female) ....high insulin levels after 30-minute glucose challenge (male) ....high insulin levels after a 30-minute glucose challenge ....hypersensitivity to TLR CpGODN + IFNg ....hyposensitivity to TLR CpGODN + IFNg ....impaired response to dsDNA- type I IFN production by macrophages ....increase in 125-03 response ....increase in B cells ....increase in B:T cells ....increase in B1 cells ....increase in B1a cells ....increase in B1a cells in B1 cells ....increase in B1b cells ....increase in B1b cells in B1 cells ....increase in B2 cells ....increase in B220 MFI in B cells ....increase in body weight- female ....increase in body weight- male ....increase in CD11b+ DCs in CD11c+ cells ....increase in CD11c+ DCs ....increase in CD4:CD8 ....increase in CD4+ T cells ....increase in CD4+ T cells in CD3+ T cells ....increase in CD44 MFI in CD4 ....increase in CD44 MFI in CD8 ....increase in CD44 MFI in T cells ....increase in CD44+ CD4 T cells ....increase in CD44+ CD8 T cells ....increase in CD44+ T cells ....increase in CD8+ T cells ....increase in CD8+ T cells in CD3+ T cells ....increase in CD8a+ DCs in CD11c+ cells ....increase in central memory CD4 T cells in CD4 T cells ....increase in central memory CD8 T cells in CD8 T cells ....increase in CTL killing dominant epitope ....increase in CTL killing subdominant epitope ....increase in dsDNA Antibody ....increase in effector memory CD4 T cells in CD4 T cells ....increase in effector memory CD8 T cells in CD8 T cells ....increase in effector T cells ....increase in IgA response to 2nd OVA/Alum Challenge (day 7) ....increase in IgD MFI in B cells ....increase in IgD+ B cells ....increase in IgE response to a Cysteine Protease (Papain) ....increase in IgG1 response to a Cysteine Protease (Papain) ....increase in IgM MFI in B cells ....increase in IgM+ B cells ....increase in LPS-induced necroptosis ....increase in macrophages ....increase in memory T cells ....increase in naive CD4 T cells in CD4 T cells ....increase in naive CD8 T cells in CD8 T cells ....increase in naive T cells ....increase in neutrophils ....increase in NK cells ....increase in NK T cells ....increase in OVA-specific IgE ....increase in OVA-specific IgE after 2nd OVA/Alum ....increase in pDCs in CD11c+ cells ....increase in phagocytosis in PECs ....increase in ratio of OVA-specific IgE over the total IgE ....increase in resistance to B10-F16 melanoma ....increase in secretory SlgA after 2nd OVA/Alum Challenge (day 7) ....increase in T cells ....increase in total cholesterol ....increase in total IgE after 2nd OVA/Alum ....increase in total IgE after 2nd OVA/Alum Challenge (day 7) ....increase in total IgE level ....increased CTL killing ....increased NK killing ....inflammatory bowel disease phenotype ....influenza proliferation in macrophages- decreased ....influenza proliferation in macrophages- increased ....influenza resistance ....innate fear: decreased ....innate fear: increased ....LCMV clone 13 resistance ....low insulin levels after a 30-minute glucose challenge ....Macrophage necroptosis: high ....Macrophage necroptosis: low ....MCMV proliferation in macrophages- decreased ....MCMV proliferation in macrophages- increased ....MCMV resistance ....MCMV susceptibility ....MTT value of PECs: decreased ....MTT value of PECs: increased ....NALP3 inflammasome signaling defect ....Nlrc4 inflammasome: high response ....Nlrc4 inflammasome: low response ....NLRP3 inflammasome: high response ....NLRP3 inflammasome: low response ....Novelty: decrease in 20min activity ....Novelty: decrease in familiar side activity ....Novelty: decrease in familiar side time ....Novelty: decrease in novel side activity ....Novelty: decrease in novel side time ....Novelty: decrease in preference percentage ....Novelty: decrease in preference score ....Novelty: decrease in total activity ....Novelty: increase in 20min activity ....Novelty: increase in familiar side activity ....Novelty: increase in familiar side time ....Novelty: increase in novel side activity ....Novelty: increase in novel side time ....Novelty: increase in preference percentage ....Novelty: increase in preference score ....Novelty: increase in total activity ....Pfizer: decrease in 30 Min Glucose Residual ....Pfizer: decrease in 30 Min glucose residual (female) ....Pfizer: decrease in 30 Min glucose residual (male) ....Pfizer: decrease in DyMA Residual ....Pfizer: decrease in DyMA-IR ....Pfizer: decrease in fasting glucose residual ....Pfizer: decrease in fasting glucose residual (female) ....Pfizer: decrease in fasting glucose residual (male) ....Pfizer: decrease in HOMA Residual ....Pfizer: decrease in HOMA residual (female) ....Pfizer: decrease in HOMA residual (male) ....Pfizer: decrease in HOMA-IR ....Pfizer: increase in 30 Min Glucose Residual ....Pfizer: increase in 30 Min glucose residual (female) ....Pfizer: increase in 30 Min glucose residual (male) ....Pfizer: increase in DyMA Residual ....Pfizer: increase in DyMA-IR ....Pfizer: increase in fasting glucose residual ....Pfizer: increase in fasting glucose residual (female) ....Pfizer: increase in fasting glucose residual (male) ....Pfizer: increase in HOMA Residual ....Pfizer: increase in HOMA residual (female) ....Pfizer: increase in HOMA residual (male) ....Pfizer: increase in HOMA-IR ....post-MCMV decrease in B cells ....post-MCMV decrease in B:T cells ....post-MCMV decrease in B1 cells ....post-MCMV decrease in B1a cells ....post-MCMV decrease in B1a cells in B1 cells ....post-MCMV decrease in B1b cells ....post-MCMV decrease in B1b cells in B1 cells ....post-MCMV decrease in B2 cells ....post-MCMV decrease in B220 MFI in B cells ....post-MCMV decrease in CD11b+ DCs in CD11c+ cells ....post-MCMV decrease in CD11c+ DCs ....post-MCMV decrease in CD4:CD8 ....post-MCMV decrease in CD4+ T cells ....post-MCMV decrease in CD4+ T cells in CD3+ T cells ....post-MCMV decrease in CD44 MFI in CD4 ....post-MCMV decrease in CD44 MFI in CD8 ....post-MCMV decrease in CD44 MFI in T cells ....post-MCMV decrease in CD44+ CD4 T cells ....post-MCMV decrease in CD44+ CD8 T cells ....post-MCMV decrease in CD44+ T cells ....post-MCMV decrease in CD8 response ....post-MCMV decrease in CD8+ T cells ....post-MCMV decrease in CD8+ T cells in CD3+ T cells ....post-MCMV decrease in CD8a+ DCs in CD11c+ cells ....post-MCMV decrease in central memory CD4 T cells in CD4 T cells ....post-MCMV decrease in central memory CD8 T cells in CD8 T cells ....post-MCMV decrease in effector memory CD4 T cells in CD4 T cells ....post-MCMV decrease in effector memory CD8 T cells in CD8 T cells ....post-MCMV decrease in effector T cells ....post-MCMV decrease in IgD MFI in B cells ....post-MCMV decrease in IgD+ B cells ....post-MCMV decrease in IgM MFI in B cells ....post-MCMV decrease in IgM+ B cells ....post-MCMV decrease in macrophages ....post-MCMV decrease in memory T cells ....post-MCMV decrease in naive CD4 T cells in CD4 T cells ....post-MCMV decrease in naive CD8 T cells in CD8 T cells ....post-MCMV decrease in naive T cells ....post-MCMV decrease in neutrophils ....post-MCMV decrease in NK cell response ....post-MCMV decrease in NK cells ....post-MCMV decrease in NK T cells ....post-MCMV decrease in pDCs in CD11c+ cells ....post-MCMV decrease in T cells ....post-MCMV increase in B cells ....post-MCMV increase in B:T cells ....post-MCMV increase in B1 cells ....post-MCMV increase in B1a cells ....post-MCMV increase in B1a cells in B1 cells ....post-MCMV increase in B1b cells ....post-MCMV increase in B1b cells in B1 cells ....post-MCMV increase in B2 cells ....post-MCMV increase in B220 MFI in B cells ....post-MCMV increase in CD11b+ DCs in CD11c+ cells ....post-MCMV increase in CD11c+ DCs ....post-MCMV increase in CD4:CD8 ....post-MCMV increase in CD4+ T cells ....post-MCMV increase in CD4+ T cells in CD3+ T cells ....post-MCMV increase in CD44 MFI in CD4 ....post-MCMV increase in CD44 MFI in CD8 ....post-MCMV increase in CD44 MFI in T cells ....post-MCMV increase in CD44+ CD4 T cells ....post-MCMV increase in CD44+ CD8 T cells ....post-MCMV increase in CD44+ T cells ....post-MCMV increase in CD8+ T cells ....post-MCMV increase in CD8+ T cells in CD3+ T cells ....post-MCMV increase in CD8a+ DCs in CD11c+ cells ....post-MCMV increase in central memory CD4 T cells in CD4 T cells ....post-MCMV increase in central memory CD8 T cells in CD8 T cells ....post-MCMV increase in effector memory CD4 T cells in CD4 T cells ....post-MCMV increase in effector memory CD8 T cells in CD8 T cells ....post-MCMV increase in effector T cells ....post-MCMV increase in IgD MFI in B cells ....post-MCMV increase in IgD+ B cells ....post-MCMV increase in IgM MFI in B cells ....post-MCMV increase in IgM+ B cells ....post-MCMV increase in macrophages ....post-MCMV increase in memory T cells ....post-MCMV increase in naive CD4 T cells in CD4 T cells ....post-MCMV increase in naive CD8 T cells in CD8 T cells ....post-MCMV increase in naive T cells ....post-MCMV increase in neutrophils ....post-MCMV increase in NK cells ....post-MCMV increase in NK T cells ....post-MCMV increase in pDCs in CD11c+ cells ....post-MCMV increase in T cells ....Rotarod time decreased ....Rotarod time increased ....RVFV proliferation in macrophages- decreased ....RVFV proliferation in macrophages- increased ....RVFV susceptibility ....suppression of LPS hypersensitivity ....T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization ....T-dependent humoral response defect- decreased antibody response to rSFV ....T-dependent humoral response defect- increased antibody response to OVA+ alum immunization ....T-dependent humoral response defect- increased antibody response to rSFV ....T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization ....T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization ....TLR signaling defect: hypersensitivity to CpG ....TLR signaling defect: hypersensitivity to CpG + IFNg ....TLR signaling defect: hypersensitivity to LPS ....TLR signaling defect: hypersensitivity to MALP2 ....TLR signaling defect: hypersensitivity to PAM3CSK4 ....TLR signaling defect: hypersensitivity to poly I:C ....TLR signaling defect: hypersensitivity to poly I:C + IFNg ....TLR signaling defect: hypersensitivity to R848 ....TLR signaling defect: hyposensitivity to CpG ....TLR signaling defect: hyposensitivity to CpG + IFNg ....TLR signaling defect: hyposensitivity to LPS ....TLR signaling defect: hyposensitivity to MALP2 ....TLR signaling defect: hyposensitivity to PAM3CSK4 ....TLR signaling defect: hyposensitivity to poly I:C ....TLR signaling defect: hyposensitivity to poly I:C + IFNg ....TLR signaling defect: hyposensitivity to R848 ....TLR signaling defect: TNF production by macrophages ....TLR signaling defect: type I IFN production by macrophages ....TLR signaling defect: type I IFN production by pDC increase in body weight iron deficiency iron excess lethality-embryonic/perinatal lethality-postnatal life span-post-weaning/aging limbs/digits/tail phenotype liver/biliary system muscle nervous system no phenotypic analysis normal phenotype other phenotype pigmentation polycythemia renal/urinary system reproductive system respiratory system skeleton phenotype skin/coat/nails taste/olfaction touch/vibrissae tumorigenesis vision/eye
1			Atp11c	18nih30a	X	60223290-60592698 bp (-)	36608577	X-linked Recessive	anemia decrease in B cells hematopoietic system homeostasis/metabolism immune system liver/biliary system
2			Atp11c	ambrosius	X	60223290-60592698 bp (-)	36608577	X-linked Recessive	anemia decrease in B cells hematopoietic system homeostasis/metabolism immune system liver/biliary system
3			Dock8	captain_morgan	19	24999529-25202432 bp (+)	25127711	Autosomal Recessive	decrease in B cells decrease in CD4+ T cells decrease in CD8+ T cells immune system
4			Muc2	Eeyore	7	141690340-141754693 bp (+)	141693356	Autosomal Semidominant	DSS: sensitive immune system
5			Muc2	kenny	7	141690340-141754693 bp (+)		Autosomal Recessive	DSS: sensitive immune system
6			Tnfaip3	lasvegas	10	19000910-19015657 bp (-)	19010758	Autosomal Recessive	immune system
7			Ptprc	lochy	1	138062861-138175708 bp (-)	138083790	Autosomal Recessive	decrease in B cells decrease in CD4+ T cells decrease in CD8+ T cells hematopoietic system immune system
8			Cd4	maat	6	124864692-124888221 bp (-)	124866684	Autosomal Recessive	decrease in CD4+ T cells immune system
9			Zap70	mrtless	1	36761798-36782818 bp (+)	36781149	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8 response decrease in CD8+ T cells immune system
10			Zap70	murdock	1	36761798-36782818 bp (+)	36779704	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8 response decrease in CD8+ T cells immune system
11			Dock8	primurus	19	24999529-25202432 bp (+)	25183609	Autosomal Recessive	decrease in B cells decrease in CD4+ T cells decrease in CD8+ T cells immune system
12			Tap1	rose	17	34187553-34197225 bp (+)	34194940	Autosomal Recessive	decrease in CD8+ T cells hematopoietic system immune system
13			Rc3h1	sanroque	1	160906418-160974978 bp (+)	160940830	Autosomal Recessive	autoimmunity immune system
14			Cd4	seshat	6	124864692-124888221 bp (-)	124872977	Autosomal Recessive	decrease in CD4+ T cells immune system
15			Cd4	thoth	6	124864692-124888221 bp (-)	124873140	Autosomal Recessive	decrease in CD4+ T cells immune system
16			Hnrnpll	thunder	17	80029487-80062268 bp (-)	80053571	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells immune system
17			Prkcb	Tilcara	7	122288751-122634402 bp (+)	122595005	Autosomal Semidominant	immune system T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
18			Card11	unmodulated	5	140872999-141000596 bp (-)	140897997	Autosomal Recessive	decrease in CD8 response decrease in NK cell response decrease in NK cells decrease in NK T cells hematopoietic system immune system skin/coat/nails
19			Muc2	Winnie	7	141690340-141754693 bp (+)	141699460	Autosomal Semidominant	DSS: sensitive DSS: sensitive day 7 immune system
20			Nfkb2	xander	19	46304737-46312090 bp (+)		Autosomal Recessive	decrease in B cells immune system
21			Unc93b1	3d	19	3935186-3949340 bp (+)	3944168	Autosomal Recessive	decrease in response to injected CpG DNA DSS: sensitive day 7 immune system MCMV susceptibility TLR signaling defect: TNF production by macrophages TLR signaling defect: type I IFN production by macrophages
22			Rorb	4-limb_clasper	19	18930605-19111196 bp (-)	18983351	Autosomal Recessive	behavior/neurological nervous system
23			Lyst	50-cal	13	13590409-13777440 bp (+)	13708212	Autosomal Recessive	increase in effector memory CD4 T cells in CD4 T cells increase in LPS-induced necroptosis MCMV susceptibility pigmentation skin/coat/nails
24			Sppl2a	abra	2	126890391-126933235 bp (-)	126923594	Autosomal Recessive	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
25			Sppl2a	abra2	2	126890391-126933235 bp (-)	126920313	Autosomal Recessive	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
26			Edaradd	achtung	13	12471209-12520450 bp (-)	12478497	Autosomal Recessive	craniofacial limbs/digits/tail phenotype skin/coat/nails
27			Edar	achtung2	10	58600789-58675654 bp (-)	58603163	Autosomal Recessive	craniofacial limbs/digits/tail phenotype skin/coat/nails
28			Tomt	add	7	101898373-101903785 bp (-)	101902129	Autosomal Recessive	behavior/neurological hearing/vestibular/ear nervous system
29			Itgax	Adendritic	7	128129547-128150656 bp (+)	128148572	Autosomal Semidominant	decrease in CD11b+ DCs in CD11c+ cells decrease in CD11c+ DCs decrease in pDCs in CD11c+ cells
30			Cd8a	alfalfa	6	71373427-71379171 bp (+)	71373728	Autosomal Recessive	decrease in CD8+ T cells decrease in naive CD8 T cells in CD8 T cells increase in CD4:CD8 increase in CD4+ T cells increase in CD4+ T cells in CD3+ T cells increase in CD44 MFI in CD8 increase in central memory CD8 T cells in CD8 T cells increase in effector memory CD8 T cells in CD8 T cells MCMV susceptibility post-MCMV decrease in CD8+ T cells post-MCMV decrease in CD8+ T cells in CD3+ T cells post-MCMV increase in CD4+ T cells in CD3+ T cells
31			Cd247	allia	1	165788681-165877277 bp (+)	165855214	Autosomal Recessive	hematopoietic competition - disadvantage immune system
32			Cd36	almond_joy	5	17781690-17888959 bp (-)	17813088	Autosomal Recessive	fasting hyperglycemia
33			Prkcb	Almonde	7	122288751-122634402 bp (+)	122582449	Autosomal Semidominant	decrease in B1 cells post-MCMV decrease in B1a cells in B1 cells post-MCMV increase in B1b cells in B1 cells T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
34			Casp8	amontillado	1	58795374-58847503 bp (+)	58844770	Autosomal Recessive	decrease in CD4:CD8 decrease in CD4+ T cells decrease in CD4+ T cells in CD3+ T cells decrease in naive CD8 T cells in CD8 T cells increase in CD11c+ DCs increase in CD44 MFI in CD4 increase in CD44 MFI in CD8 increase in CD44 MFI in T cells increase in CD8+ T cells in CD3+ T cells increase in effector memory CD4 T cells in CD4 T cells increase in effector memory CD8 T cells in CD8 T cells increase in neutrophils increase in NK cells increase in NK T cells
35			Pik3r1	anubis	13	101680563-101768217 bp (-)	101702776	Autosomal Recessive	decrease in B cells decrease in B:T cells decrease in B1a cells in B1 cells decrease in IgD+ B cells decrease in IgM+ B cells increase in CD4+ T cells increase in CD8+ T cells increase in IgE response to a Cysteine Protease (Papain) increase in OVA-specific IgE increase in T cells
36			Col4a4	aoba	1	82448423-82586849 bp (-)	82535740	Autosomal Recessive	digestive/alimentary hearing/vestibular/ear renal/urinary system
37			Tnfsf13b	Applecrisp	8	10006843-10035441 bp (+)	10031534	Autosomal Semidominant	decrease in B:T cells T-dependent humoral response defect- decreased antibody response to rSFV
38			Dock2	Arches	11	34226815-34783892 bp (-)	34689760	Autosomal Semidominant	decrease in CD4:CD8 decrease in CD4+ T cells in CD3+ T cells increase in B1 cells increase in CD8+ T cells in CD3+ T cells
39			Alms1	ares	6	85587531-85702753 bp (+)	85621275	Autosomal Recessive	adipose tissue growth/size increase in body weight
40			Bicc1	artemis	10	70922832-71159700 bp (-)	71027954	Autosomal Recessive	homeostasis/metabolism life span-post-weaning/aging renal/urinary system
41			Fcer2a	arum	8	3681737-3694174 bp (-)	3688796	Autosomal Recessive	decrease in B cells decrease in IgD+ B cells decrease in IgM+ B cells increase in CD11c+ DCs increase in neutrophils
42			Tlr9	Asura	9	106222598-106226883 bp (+)	106224647	Autosomal Semidominant	TLR signaling defect: hyposensitivity to CpG
43			Eif2ak4	atchoum	2	118388618-118475234 bp (+)	118400653	Autosomal Recessive	adenovirus infection of macrophages- increased immune system MCMV proliferation in macrophages- increased
44			Traf3	bananasplit	12	111166370-111267153 bp (+)	111262036	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV
45			Grhl1	bandit	12	24572287-24617391 bp (+)	24578027	Autosomal Recessive	decrease in body weight growth/size skin/coat/nails
46			Gk5	barrener	9	96119362-96184608 bp (+)	96129096	Autosomal Recessive	skin/coat/nails
47			Frem1	bat	4	82897927-83052339 bp (-)	82983060	Autosomal Recessive	limbs/digits/tail phenotype renal/urinary system skin/coat/nails vision/eye
48			Mlph	beau	1	90915085-90951142 bp (+)	90928122	Autosomal Recessive	pigmentation skin/coat/nails
49			Ptprc	belittle	1	138062861-138175708 bp (-)	138137493	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells hematopoietic system immune system
50			Rho	Bemr3	6	115931927-115938829 bp (+)	115935131	Autosomal Semidominant	vision/eye
51			Rac2	Big_bend	15	78559169-78572783 bp (-)	78565945	Autosomal Semidominant	decrease in B1 cells decrease in B1a cells in B1 cells increase in B1b cells
52			Mc4r	Big_boned	18	66857715-66860472 bp (-)	66859488	Autosomal Semidominant	growth/size increase in body weight
53			Rac2	bingo	15	78559169-78572783 bp (-)	78564968	Unknown	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
54			Blk	blaenka	14	63372837-63417187 bp (-)	63384002	Autosomal Recessive	increase in IgE response to a Cysteine Protease (Papain) increase in total IgE level
55			Hps3	blue	3	19995945-20035315 bp (-)	20030796	Unknown	pigmentation skin/coat/nails
56			Cd40	bluebonnet	2	165055627-165072948 bp (+)	165062301	Autosomal Recessive	increase in OVA-specific IgE T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
57			Ticam2	Branch	18	46559155-46574533 bp (-)	46560651	Autosomal Semidominant	TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to R848 TLR signaling defect: TNF production by macrophages
58			Pah	bronze	10	87521795-87584136 bp (+)	87570226	Autosomal Recessive	behavior/neurological homeostasis/metabolism pigmentation skin/coat/nails
59			Atp7a	brown	X	106027276-106124926 bp (+)	106088491	X-linked Recessive	pigmentation skin/coat/nails
60			Malt1	bryce_canyon	18	65430963-65478823 bp (+)	65462915	Autosomal Recessive	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
61			Adamts20	buckeye	15	94270163-94465418 bp (-)	94341087	Autosomal Recessive	pigmentation skin/coat/nails
62			Tlr4	bugsy	4	66827584-66930284 bp (+)	66839254	Autosomal Recessive	Macrophage necroptosis: high TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
63			Ap3b1	bullet_gray	13	94358960-94566316 bp (+)	94451087	Autosomal Recessive	immune system MCMV susceptibility pigmentation skin/coat/nails
64			Nfkbid	bumble	7	30421732-30428746 bp (+)	30425411	Autosomal Recessive	decrease in B cells T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
65			Dsg4	burrito	18	20436175-20471821 bp (+)	20451862	Autosomal Recessive	skin/coat/nails
66			Lepr	Business_class	4	101717404-101815352 bp (+)	101764872	Autosomal Semidominant	adipose tissue behavior/neurological growth/size homeostasis/metabolism reproductive system
67			Blnk	busy	19	40928927-40994535 bp (-)	40952391	Autosomal Recessive	decrease in B cells T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
68			Tyrp1	butter	4	80834123-80851719 bp (+)	80840806	Autosomal Recessive	pigmentation skin/coat/nails
69			Tyrp1	ca-los	4	80834123-80851719 bp (+)	80844868	Autosomal Recessive	pigmentation skin/coat/nails
70			Ptpn6	candle	6	124720707-124738714 bp (-)	124728419	Autosomal Recessive	decrease in B cells decrease in B2 cells decrease in IgD+ B cells decrease in IgM+ B cells increase in B1 cells increase in B1a cells increase in B1a cells in B1 cells increase in B1b cells increase in CD11c+ DCs increase in CD44 MFI in CD8 increase in macrophages
71			Dock2	capitol_reef	11	34226815-34783892 bp (-)	34294170	Autosomal Recessive	increase in OVA-specific IgE increase in total IgE level
72			Slc45a2	cardigan	15	11000721-11029233 bp (+)	11022172	Autosomal Recessive	pigmentation skin/coat/nails
73			Cd8b1	Carlsbad	6	71322812-71337451 bp (+)	71334101	Autosomal Semidominant	decrease in CD8+ T cells in CD3+ T cells increase in CD4:CD8 increase in CD4+ T cells in CD3+ T cells T-dependent humoral response defect- increased antibody response to rSFV
74			Mmp14	cartoon	14	54431604-54441258 bp (+)	54439999	Autosomal Recessive	craniofacial growth/size lethality-embryonic/perinatal life span-post-weaning/aging reproductive system vision/eye
75			Kit	Casper	5	75574916-75656722 bp (+)	75645875	Autosomal Dominant	hematopoietic system immune system pigmentation reproductive system skin/coat/nails
76			Prkcq	celina	2	11172108-11301222 bp (+)	11283849	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
77			Prkcq	celina2	2	11172108-11301222 bp (+)	11226986	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
78			Zeb1	cellophane	18	5591860-5775467 bp (+)	5770554	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
79			Oca2	charbon	7	56239760-56536517 bp (+)	56316405	Autosomal Recessive	pigmentation skin/coat/nails
80			Lyst	charlotte_gray	13	13590409-13777440 bp (+)	13602026	Autosomal Recessive	pigmentation skin/coat/nails
81			Lyst	charzard	13	13590409-13777440 bp (+)	13647083	Autosomal Recessive	pigmentation skin/coat/nails
82			Slc45a2	cheng	15	11000721-11029233 bp (+)	11025868	Autosomal Recessive	pigmentation skin/coat/nails
83			Fas	cherry	19	34290659-34327770 bp (+)	34327140	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells decrease in T cells increase in neutrophils increase in NK cells
84			Lepr	Cherub	4	101717404-101815352 bp (+)	101768063	Autosomal Semidominant	adipose tissue behavior/neurological growth/size homeostasis/metabolism reproductive system
85			Rorc	chestnut	3	94372831-94397839 bp (+)	94377609	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells
86			Tyrp1	chi	4	80834123-80851719 bp (+)	80840778	Autosomal Recessive	pigmentation skin/coat/nails
87			Ap3d1	christian	10	80706978-80742211 bp (-)	80730042	Unknown	pigmentation skin/coat/nails
88			Mc4r	chubby	18	66857715-66860472 bp (-)	66859847	Autosomal Recessive	adipose tissue growth/size
89			Jak3	citron	8	71676296-71690575 bp (+)	71686976	Autosomal Recessive	cellular phenotype hematopoietic system immune system increase in B cells increase in B:T cells increase in IgD+ B cells increase in IgM+ B cells
90			Themis	cloudies	10	28668360-28883818 bp (+)	28761199	Autosomal Recessive	decrease in CD4:CD8 decrease in CD4+ T cells decrease in CD8+ T cells decrease in naive CD4 T cells in CD4 T cells decrease in naive CD8 T cells in CD8 T cells decrease in T cells decreased CTL killing increase in B:T cells increase in CD4+ T cells in CD3+ T cells increase in CD44 MFI in CD4 increase in CD44 MFI in CD8 increase in CD44 MFI in T cells increase in CD44+ CD8 T cells increase in CD8+ T cells in CD3+ T cells increase in central memory CD4 T cells in CD4 T cells increase in central memory CD8 T cells in CD8 T cells increase in effector memory CD4 T cells in CD4 T cells
91			Prkdc	clover	16	15637866-15842235 bp (+)	15702157	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
92			Rab27a	concrete	9	73044854-73098501 bp (+)	73082409	Autosomal Recessive	immune system MCMV susceptibility pigmentation skin/coat/nails
93			Trp53bp1	concur	2	121193281-121271407 bp (-)	121270319	Autosomal Recessive	decrease in IgD MFI in B cells
94			Ppp3cb	Copacabana	14	20499364-20546573 bp (-)	20530942	Autosomal Semidominant	Circadian defect: decreased wheel revs/24H decrease in CD4+ T cells decrease in CD8+ T cells decrease in T cells DSS: sensitive day 10 increase in B:T cells increase in CD44 MFI in CD8 increase in central memory CD8 T cells in CD8 T cells increase in NK cells T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
95			Oca2	cotton	7	56239760-56536517 bp (+)	56535968	Autosomal Recessive	skin/coat/nails
96			Myo7a	coward	7	98051060-98119524 bp (-)	98085466	Autosomal Recessive	behavior/neurological nervous system
97			Tlr9	Cpg1	9	106222598-106226883 bp (+)	106225007	Autosomal Semidominant	decrease in response to injected CpG DNA immune system MCMV susceptibility TLR signaling defect: TNF production by macrophages TLR signaling defect: type I IFN production by macrophages
98			Tlr9	Cpg11	9	106222598-106226883 bp (+)	106224586	Autosomal Semidominant	TLR signaling defect: TNF production by macrophages
99			Tlr9	Cpg2	9	106222598-106226883 bp (+)	106226465	Autosomal Semidominant	immune system MCMV susceptibility TLR signaling defect: TNF production by macrophages
100			Tlr9	Cpg3	9	106222598-106226883 bp (+)	106224152	Autosomal Semidominant	decrease in response to injected CpG DNA immune system MCMV susceptibility TLR signaling defect: TNF production by macrophages TLR signaling defect: type I IFN production by macrophages
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