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Phenotypic Mutations

506 mutations affecting 266 genes are currently displayed.

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Mutations Mapped and Identified Based on Phenotype

[records 1 to 100 of 506] next >> last >| 10 25 50 100 500 1000 per page Full List
	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 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			Sgk3	woolly	1	9798107-9900845 bp (+)	9886104	Autosomal Recessive	skin/coat/nails
2			Dst	tinsel	1	33908225-34308661 bp (+)	34164167	Autosomal Recessive	behavior/neurological
3			Dst	gobble	1	33908225-34308661 bp (+)	34165155	Autosomal Recessive	behavior/neurological growth/size
4			Dst	phelps	1	33908225-34308661 bp (+)	34223795	Unknown	growth/size
5			Zap70	waterfowl	1	36761798-36782818 bp (+)	36770811	Autosomal Recessive	decrease in CD4+ T cells decrease in CD4+ T cells in CD3+ T cells decrease in CD8+ T cells decrease in T cells increase in B:T cells
6			Zap70	wanna	1	36761798-36782818 bp (+)	36770983	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells T-dependent humoral response defect- decreased antibody response to rSFV
7			Zap70	mesa_verde	1	36761798-36782818 bp (+)	36779173	Autosomal Recessive	increase in CD44 MFI in CD8 increase in CD44 MFI in T cells increase in CD44+ CD8 T cells increase in CD44+ T cells increase in central memory CD8 T cells in CD8 T cells T-dependent humoral response defect- decreased antibody response to rSFV
8			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
9			Zap70	trebia	1	36761798-36782818 bp (+)	36781025	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells hematopoietic competition - disadvantage immune system
10			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
11			Zap70	wanna2	1	36761798-36782818 bp (+)	36781412	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV
12			Stat1	domino	1	52119440-52161865 bp (+)	52140588	Autosomal Recessive	decrease in NK cell response decrease in response to injected CpG DNA immune system MCMV proliferation in macrophages- increased MCMV susceptibility RVFV susceptibility
13			Stat1	poison	1	52119440-52161865 bp (+)	52151225	Autosomal Recessive	decrease in NK cell response immune system MCMV susceptibility
14			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
15			Crygd	L23	1	65061872-65063452 bp (-)	65063084	Autosomal Semidominant	vision/eye
16			Crygb	L10	1	65080219-65082288 bp (-)	65082157	Autosomal Semidominant	vision/eye
17			Epha4	frog	1	77367189-77515088 bp (-)	77481076	Autosomal Recessive	behavior/neurological immune system nervous system
18			Pax3	Widget	1	78101267-78197134 bp (-)	78122590	Unknown	pigmentation skin/coat/nails
19			Pax3	Nidoqueen	1	78101267-78197134 bp (-)	78132232	Unknown	pigmentation skin/coat/nails
20			Col4a4	aoba	1	82448423-82586849 bp (-)	82535740	Autosomal Recessive	digestive/alimentary hearing/vestibular/ear renal/urinary system
21			Inpp5d	styx	1	87620312-87720507 bp (+)	87669784	Autosomal Recessive	decrease in CD8 response growth/size hematopoietic system homeostasis/metabolism immune system life span-post-weaning/aging respiratory system
22			Inpp5d	Orange	1	87620312-87720507 bp (+)	87697546	Autosomal Semidominant	decrease in B cells decrease in IgD+ B cells decrease in IgM+ B cells
23			Mlph	beau	1	90915085-90951142 bp (+)	90928122	Autosomal Recessive	pigmentation skin/coat/nails
24			Mlph	koala	1	90915085-90951142 bp (+)	90933301	Autosomal Recessive	pigmentation skin/coat/nails
25			Per2	Kortiku	1	91415982-91459324 bp (-)	91423829	Autosomal Semidominant	Circadian defect: decrease in circadian active phase duration Circadian defect: decrease in circadian phase angle intercept Circadian defect: decrease in circadian tau DD by eye Circadian defect: decrease in tau chi squared periodogram Circadian rhythm
26			Syt2	kringle	1	134646677-134762593 bp (+)	134747620	Autosomal Recessive	behavior/neurological growth/size lethality-postnatal nervous system
27			Ptprc	guotie	1	138062861-138175708 bp (-)	138068401	Autosomal Recessive	decrease in B cells decrease in B:T cells decrease in B1a cells in B1 cells decrease in CD4+ T cells 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+ T cells decrease in CD8+ T cells in CD3+ T cells decrease in IgM+ B cells decrease in naive CD8 T cells in CD8 T cells decrease in T cells immune system increase in B1 cells increase in CD4:CD8 increase in CD4+ T cells in CD3+ T cells increase in neutrophils increase in pDCs in CD11c+ cells T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
28			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
29			Ptprc	belittle	1	138062861-138175708 bp (-)	138137493	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells hematopoietic system immune system
30			Nek7	Cuties	1	138482875-138620141 bp (-)	138544242	Autosomal Semidominant	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response
31			Pappa2	Lilliputian	1	158711727-158980490 bp (-)	158716990	Autosomal Semidominant	decrease in body weight growth/size
32			Pappa2	Lilliputian2	1	158711727-158980490 bp (-)	158834918	Autosomal Semidominant	Circadian defect: decrease in final body weight decrease in body weight decrease in body weight- female growth/size
33			Rc3h1	sanroque	1	160906418-160974978 bp (+)	160940830	Autosomal Recessive	autoimmunity immune system
34			Rc3h1	curlyfry	1	160906418-160974978 bp (+)	160959399	Autosomal Recessive	decrease in body weight growth/size limbs/digits/tail phenotype
35			Fasl	riogrande2	1	161780691-161788495 bp (-)	161787138	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV
36			Sell	dim_sum2	1	164061982-164084181 bp (+)	164065661	Autosomal Recessive	decrease in naive CD4 T cells in CD4 T cells decrease in naive CD8 T cells in CD8 T cells T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
37			Sell	dim_sum	1	164061982-164084181 bp (+)	164066201	Autosomal Recessive	decrease in naive CD4 T cells in CD4 T cells
38			Cd247	allia	1	165788681-165877277 bp (+)	165855214	Autosomal Recessive	hematopoietic competition - disadvantage immune system
39			a	garfield	2	154791402-155051012 bp (+)		Unknown	pigmentation skin/coat/nails
40			a	killer_whale	2	154791402-155051012 bp (+)		Unknown	pigmentation skin/coat/nails
41			a	yellowbelly	2	154791402-155051012 bp (+)		Unknown	pigmentation skin/coat/nails
42			Dclre1c	kiwis	2	3424131-3464130 bp (+)	3436475	Autosomal Recessive	decrease in B cells decrease in B1a cells decrease in B2 cells decrease in B220 MFI in B cells decrease in CD4+ T cells decrease in CD8+ T cells decrease in IgD MFI in B cells decrease in IgD+ B cells decrease in IgM+ B cells decrease in NK T cells decrease in T cells increase in B1b 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 macrophages increase in neutrophils increase in NK cells 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
43			Prkcq	celina2	2	11172108-11301222 bp (+)	11226986	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
44			Prkcq	celina	2	11172108-11301222 bp (+)	11283849	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
45			Rxra	pinkie	2	27676440-27762957 bp (+)	27752334	Autosomal Recessive	hematopoietic system immune system pigmentation skeleton phenotype skin/coat/nails vision/eye
46			Neurod1	cruz	2	79452521-79456751 bp (-)	79454595	Autosomal Recessive	behavior/neurological hearing/vestibular/ear
47			Alx4	goofy	2	93642384-93681339 bp (+)	93675369	Autosomal Recessive	craniofacial limbs/digits/tail phenotype
48			Rag2	snowcock	2	101624718-101632529 bp (+)	101630603	Autosomal Recessive	decrease in B cells decrease in B2 cells decrease in CD4+ T cells increase in CD44 MFI in CD4 increase in CD44 MFI in CD8 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
49			Rag1	huckle	2	101638282-101649501 bp (-)	101641223	Autosomal Recessive	decrease in B cells decrease in CD4+ T cells decrease in CD8+ T cells immune system
50			Rag1	maladaptive	2	101638282-101649501 bp (-)	101645647	Autosomal Recessive	decrease in B cells decrease in CD4+ T cells decrease in CD8+ T cells hematopoietic system immune system RVFV susceptibility
51			Eif2ak4	atchoum	2	118388618-118475234 bp (+)	118400653	Autosomal Recessive	adenovirus infection of macrophages- increased immune system MCMV proliferation in macrophages- increased
52			Trp53bp1	lentil2	2	121193281-121271407 bp (-)	121207887	Autosomal Recessive	decrease in IgD MFI in B cells decrease in IgD+ B cells decrease in naive CD8 T cells in CD8 T cells increase in CD44 MFI in CD8 increase in central memory CD8 T cells in CD8 T cells T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
53			Trp53bp1	lentil	2	121193281-121271407 bp (-)	121251868	Autosomal Recessive	decrease in CD4+ T cells decrease in IgD MFI in B cells decrease in T cells increase in B:T cells increase in CD44 MFI in T cells
54			Gatm	mrbig	2	122594467-122611303 bp (-)	122600744	Autosomal Recessive	decrease in body weight DSS: sensitive day 10 DSS: sensitive day 7
55			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
56			Sppl2a	abra	2	126890391-126933235 bp (-)	126923594	Autosomal Recessive	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57			Tgm3	tortellini	2	130012349-130050399 bp (+)	130024585	Autosomal Recessive	immune system RVFV susceptibility skin/coat/nails
58			Pax1	wavy	2	147361925-147393295 bp (+)	147365802	Autosomal Recessive	limbs/digits/tail phenotype
59			Itch	scratch	2	155133509-155226855 bp (+)	155172561	Autosomal Recessive	increase in IgE response to a Cysteine Protease (Papain) increase in total IgE level
60			Rims4	demure	2	163859751-163918683 bp (-)	163864120	Autosomal Recessive	decrease in body weight growth/size
61			Rims4	diminutive	2	163859751-163918683 bp (-)	163864865	Autosomal Recessive	decrease in body weight growth/size
62			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
63			Cp	iron10	3	19957054-20009145 bp (+)	19989148	Autosomal Recessive	iron deficiency
64			Hps3	gandalf	3	19995945-20035315 bp (-)	20012796	Autosomal Recessive	pigmentation skin/coat/nails
65			Hps3	pam_gray	3	19995945-20035315 bp (-)	20017173	Autosomal Recessive	DSS: sensitive day 7 pigmentation skin/coat/nails
66			Hps3	blue	3	19995945-20035315 bp (-)	20030796	Unknown	pigmentation skin/coat/nails
67			Tlr2	languid	3	83836272-83841767 bp (-)	83837315	Autosomal Recessive	immune system TLR signaling defect: TNF production by macrophages
68			Rorc	chestnut	3	94372831-94397839 bp (+)	94377609	Autosomal Recessive	decrease in CD4+ T cells decrease in CD8+ T cells
69			Rorc	macadamias2	3	94372831-94397839 bp (+)	94387193	Autosomal Recessive	decrease in B2 cells 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 B:T cells increase in B1a cells increase in B1b cells increase in CD44 MFI in CD4 increase in CD44 MFI in CD8 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 IgD MFI in B cells increase in macrophages T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
70			Rorc	macadamias	3	94372831-94397839 bp (+)	94397302	Autosomal Recessive	T-dependent humoral response defect- decreased antibody response to rSFV
71			Gja8	L1	3	96918863-96926020 bp (-)	96920197	Autosomal Dominant	vision/eye
72			Nfkb1	Finlay	3	135584655-135691547 bp (-)	135595053	Autosomal Semidominant	Nlrc4 inflammasome: low response NLRP3 inflammasome: low response T-dependent humoral response defect- decreased antibody response to rSFV
73			Dock7	moonlight	4	98936675-99120860 bp (-)		Autosomal Recessive	behavior/neurological DSS: sensitive day 7 pigmentation skin/coat/nails
74			Lyn	Pacific	4	3678115-3813122 bp (+)	3745330	Autosomal Semidominant	decrease in CD4+ T cells decrease in CD8+ T cells decrease in NK cells decrease in T cells increase in B1 cells increase in CD11c+ DCs increase in macrophages
75			Lyn	Lemon	4	3678115-3813122 bp (+)	3746768	Autosomal Semidominant	decrease in B cells decrease in IgD+ B cells decrease in IgM+ B cells increase in neutrophils
76			Lyn	Cress	4	3678115-3813122 bp (+)	3789908	Autosomal Semidominant	decrease in B cells decrease in B:T cells decrease in B220 MFI in B cells decrease in IgD+ B cells decrease in IgM+ B cells increase in B1a cells increase in B1a cells in B1 cells increase in CD4+ T cells increase in CD8+ T cells increase in T cells 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
77			Esrp1	triaka	4	11331933-11386783 bp (-)	11379300	Autosomal Recessive	behavior/neurological hearing/vestibular/ear nervous system
78			Aqp3	phoebus	4	41092722-41098183 bp (-)	41095252	Autosomal Recessive	DSS: sensitive immune system
79			Pax5	glacier	4	44531145-44710487 bp (-)	44679494	Autosomal Recessive	decrease in B1b cells in B1 cells increase in B1 cells
80			Tlr4	Lops	4	66827584-66930284 bp (+)	66833880	Autosomal Semidominant	NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
81			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
82			Tlr4	Guardiola	4	66827584-66930284 bp (+)	66839303	Autosomal Semidominant	Nlrc4 inflammasome: low response TLR signaling defect: hyposensitivity to LPS
83			Tlr4	milquetoast	4	66827584-66930284 bp (+)	66839444	Autosomal Recessive	TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
84			Tlr4	cruyff	4	66827584-66930284 bp (+)	66840326	Autosomal Recessive	Macrophage necroptosis: low NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS
85			Tlr4	lps3	4	66827584-66930284 bp (+)	66841097	Autosomal Recessive	immune system TLR signaling defect: TNF production by macrophages TLR signaling defect: type I IFN production by macrophages
86			Tlr4	Lps4	4	66827584-66930284 bp (+)	66841142	Autosomal Semidominant	immune system TLR signaling defect: TNF production by macrophages
87			Tlr4	don_knotts	4	66827584-66930284 bp (+)	66841172	Autosomal Recessive	decrease in B cells decrease in B220 MFI in B cells decrease in IgD+ B cells decrease in IgM+ B cells TLR signaling defect: hyposensitivity to LPS
88			Tyrp1	chi	4	80834123-80851719 bp (+)	80840778	Autosomal Recessive	pigmentation skin/coat/nails
89			Tyrp1	butter	4	80834123-80851719 bp (+)	80840806	Autosomal Recessive	pigmentation skin/coat/nails
90			Tyrp1	ca-los	4	80834123-80851719 bp (+)	80844868	Autosomal Recessive	pigmentation skin/coat/nails
91			Frem1	bat	4	82897927-83052339 bp (-)	82983060	Autosomal Recessive	limbs/digits/tail phenotype renal/urinary system skin/coat/nails vision/eye
92			Lepr	odd	4	101717404-101815352 bp (+)	101728075	Unknown	adipose tissue behavior/neurological growth/size homeostasis/metabolism
93			Lepr	paleo	4	101717404-101815352 bp (+)	101745645	Autosomal Recessive	adipose tissue Circadian defect: increase in final body weight Circadian rhythm growth/size increase in body weight increase in body weight- female
94			Lepr	Business_class	4	101717404-101815352 bp (+)	101764872	Autosomal Semidominant	adipose tissue behavior/neurological growth/size homeostasis/metabolism reproductive system
95			Lepr	giant	4	101717404-101815352 bp (+)	101765152	Autosomal Recessive	30 min GTT hyperglycemic decreased NK killing increase in body weight increase in OVA-specific IgE increase in total IgE level
96			Lepr	Cherub	4	101717404-101815352 bp (+)	101768063	Autosomal Semidominant	adipose tissue behavior/neurological growth/size homeostasis/metabolism reproductive system
97			Lepr	Well-upholstered	4	101717404-101815352 bp (+)	101772959	Autosomal Semidominant	adipose tissue behavior/neurological growth/size homeostasis/metabolism reproductive system
98			Lck	iconoclast	4	129548349-129573641 bp (-)	129555604	Autosomal Recessive	decrease in CD8 response decrease in CD8+ T cells hematopoietic system immune system
99			Lck	stromberg	4	129548349-129573641 bp (-)	129555640	Autosomal Recessive	decrease in CD4:CD8 decrease in CD4+ T cells decrease in CD4+ T cells in CD3+ T cells decrease in CD8+ T cells decrease in T cells DSS: resistant day 10 increase in B:T cells increase in CD44 MFI in CD4 increase in CD44 MFI in CD8 increase in CD8+ T cells in CD3+ T cells T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV
100			Lck	lockdown	4	129548349-129573641 bp (-)	129558127	Autosomal Recessive	decrease in CD4:CD8 decrease in CD4+ T cells decrease in CD4+ T cells in CD3+ T cells increase in B:T cells increase in CD44 MFI in CD8 increase in CD44 MFI in T cells increase in CD8+ T cells increase in CD8+ T cells in CD3+ T cells
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