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Phenotypic Mutations

3 mutations affecting 2 genes are currently displayed.

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Mutations Mapped and Identified Based on Phenotype

[records 1 to 3 of 3] 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 Day 1 ....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 SBP average ....Blood pressure defect: decrease in SBP day 3 ....Blood pressure defect: increase in DBP Day 1 ....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 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			Mlkl	necro	8	111311797-111338177 bp (-)	111312100	Autosomal Recessive	Macrophage necroptosis: low
2			Mlkl	secro	8	111311797-111338177 bp (-)	111315567	Autosomal Recessive	Macrophage necroptosis: low
3			Card11	unmodulated2	5	140872999-141000596 bp (-)	140883782	Autosomal Recessive	decrease in B:T cells decrease in B1a cells in B1 cells decrease in B220 MFI in B cells decrease in effector memory CD8 T cells in CD8 T cells decrease in IgM+ B cells increase in B1b cells in B1 cells increase in CD4+ T cells increase in CD8+ T cells increase in IgM MFI in B cells increase in NK 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
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