Phenotypic Mutations

583 mutations affecting 277 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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101 UTSW Pax5 k2 4 44531145-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
FACS B220 MFI - decreased
FACS IgD MFI - decreased
immune system
102 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
103 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) FACS B220 MFI - decreased
immune system
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
104 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
105 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Unknown (1;0)
Autosomal Recessive (1;6)

Autosomal Semidominant (3;19)
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
106 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
107 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
108 UTSW Tlr4 lps3 4 66827584-66930284 bp (+) 66841097 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
109 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
110 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
FACS B cells - decreased
FACS B220 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
111 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) pigmentation
skin/coat/nails
112 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
113 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
Autosomal Recessive (1;1)
immune system
MCMV resistance
pigmentation
skin/coat/nails
114 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Unknown limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
115 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
116 UTSW Lepr paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (7;107) adipose tissue
Body Weight - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
117 UTSW
has photo
Lepr business_class 4 101717404-101815352 bp (+) 101764872 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
118 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
growth/size
immune system
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
119 UTSW
has photo
Lepr cherub 4 101717404-101815352 bp (+) 101768063 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
120 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
121 UTSW
has photo
Lepr fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (34;430) Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
Blood Pressure: SBP Average - decreased
Blood Pressure: SBP Day 3 - decreased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (HFD
0 weeks) - increased
Body Weight (HFD
2 weeks) - increased
Body Weight (HFD
4 weeks) - increased
Bone: Fat Mass - increased
Bone: Fat Mass (female) - increased
Bone: Fat Mass (male) - increased
Bone: Lean Fat Ratio - decreased
Bone: Lean Fat Ratio (female) - decreased
Bone: Liver Fat - increased
Bone: Liver Fat (female) - increased
Bone: Liver Fat (normalized) - decreased
Bone: Liver Fat (normalized
female) - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
Bone: Tibia Length (female) - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
growth/size
immune system
Insulin (HFD
2h refeeding) - increased
Insulin (HFD
fasting) - increased
Liver Triglyceride (HFD) - increased
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
122 UTSW Lck iconoclast 4 129548349-129573641 bp (-) 129555604 Unknown (1;0) CTL killing - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
123 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive (13;138) DSS: resistant day 10
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
124 UTSW Lck lockdown 4 129548349-129573641 bp (-) 129558127 Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
immune system
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
125 UTSW Pik3cd grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
Autosomal Recessive (8;47)

Autosomal Semidominant (2;9)
dsDNA induced type I IFN production - increased
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
MCMV proliferation in macrophages - increased
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B1a cells - decreased
post-MCMV FACS B1a cells in B1 cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
126 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
127 UTSW Tlr6 m2sd2 5 64953106-64960048 bp (-) 6540076 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
128 UTSW Tlr6 m2sd1 5 64953106-64960048 bp (-) 6540276 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
129 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
130 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
vision/eye
131 UTSW Nos3 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) DSS: sensitive day 7
immune system
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
132 UTSW Tlr6 m2sd3 5 64953106-64960048 bp (-) 64954241 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
133 UTSW Tlr6 insouciant 5 64953106-64960048 bp (-) 64954583 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
134 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 30 min GTT hyperglycemic
135 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
136 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
137 UTSW Kit pretty2 5 75574916-75656722 bp (+) 75649550 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
138 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
139 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) FACS B cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
OVA-specific IgE - increased
Pfizer: increase in 30 Min Glucose Residual
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
140 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown skin/coat/nails
141 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (2;9) FACS B220 MFI - decreased
immune system
skin/coat/nails
142 UTSW
has photo
Pkd2 Nephro 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) renal/urinary system
143 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
Body Weight - increased
Body Weight (Female) - increased
growth/size
immune system
impaired response to dsDNA- type I IFN production by macrophages
Pfizer: decrease in 30 Min glucose residual (female)
144 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
145 UTSW Tfr2 iron-man 5 137569851-137587481 bp (+) 137583153 Unknown homeostasis/metabolism
iron excess
146 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Unknown immune system
limbs/digits/tail phenotype
skeleton phenotype
147 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
148 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS NK T cells - increased
FACS T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
149 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
150 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (3;16) FACS B1 cells - increased
FACS B1a cells in B1 cells - increased
immune system
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
151 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Unknown (1;0) CTL killing - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
152 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Unknown CD8 response - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
153 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive (1;7) FACS B1a cells - increased
immune system
154 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) FACS NK cells - decreased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
155 UTSW Kcnj8 mayday 6 142564939-142571356 bp (-) Unknown (2;0) cardiovascular system
homeostasis/metabolism
immune system
lethality-postnatal
MCMV susceptibility
156 UTSW Lep potbelly 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive (5;35) adipose tissue
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
growth/size
immune system
157 UTSW Lep potbelly2 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) Body Weight - increased
Body Weight (DSS) - increased
growth/size
158 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38)
Autosomal Semidominant (1;4)
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
fasting hypoglycemia (female)
immune system
Pfizer: HOMA-IR - increased
TLR signaling defect: hyposensitivity to CpG + IFNg
vision/eye
159 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Unknown (1;0) DSS: sensitive day 7
immune system
160 UTSW Gimap5 sphinx 6 48746197-48754210 bp (+) 48752609 Unknown (2;0) CTL killing - decreased
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
inflammatory bowel disease phenotype
lethality-postnatal
life span-post-weaning/aging
liver/biliary system
MCMV susceptibility
NK cell response - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
161 UTSW Kbtbd2 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (3;17) 30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
162 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (5;34)

Autosomal Semidominant (1;7)
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS B1a cells - decreased
FACS CD44+ CD8 T cells - increased
growth/size
immune system
liver/biliary system
163 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown behavior/neurological
164 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive (2;5) behavior/neurological
growth/size
immune system
MCMV susceptibility
nervous system
165 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
T-dependent humoral response defect- increased antibody response to rSFV
166 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
167 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5;44) FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
168 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
Body Weight - increased
Body Weight (Male) - increased
growth/size
169 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (16;118)

Autosomal Semidominant (3;10)
30 min GTT hyperglycemic
30 Min. Insulin - increased
30 Min. Insulin (Female) - increased
30 Min. Insulin (Male) - increased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
fasting hyperglycemia
fasting hyperglycemia (female)
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
growth/size
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Female) - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
170 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
30 Min. Insulin - increased
30 Min. Insulin (Male) - increased
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
171 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Unknown limbs/digits/tail phenotype
reproductive system
172 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (3;40)
Autosomal Semidominant (1;4)
eye: chorioretinal lesions
eye: decrease in BM to ILM thickness
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
vision/eye
173 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) behavior/neurological
limbs/digits/tail phenotype
nervous system
174 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive (4;14) behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
hearing/vestibular/ear
immune system
175 UTSW Pparg energy 6 115361221-115490401 bp (+) 115451044 Unknown (3;0) Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
growth/size
176 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown vision/eye
177 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (8;52)
Autosomal Semidominant (3;14)
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD8 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
immune system
178 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Unknown hematopoietic system
immune system
179 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Unknown hematopoietic system
immune system
180 UTSW Ptpn6 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (11;94) FACS B1 cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
181 UTSW Ptpn6 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
Autosomal Semidominant (6;34)
FACS B cells - decreased
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
182 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown FACS CD4+ T cells - decreased
immune system
183 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
184 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Unknown FACS CD4+ T cells - decreased
immune system
185 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown FACS CD4+ T cells - decreased
immune system
186 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20) FACS NK T cells - increased
fasting hyperglycemia (female)
immune system
NK cell response - decreased
NK killing - decreased
187 UTSW Ltbr armitage 6 125306571-125313885 bp (-) 125312794 Unknown (2;0)
Autosomal Recessive (2;6)
Bone: Lean Fat Ratio (female) - increased
Bone: Lean Mass (female) - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
188 UTSW Ltbr marine_blue 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;71)
Autosomal Semidominant (5;26)
CTL killing - increased
CTL killing dominant epitope - increased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - decreased
FACS CD8+ T cells - decreased
FACS NK cells - decreased
immune system
NK cell response - decreased
NK killing - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
189 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (5;28) FACS B:T cells - increased
FACS IgD MFI - decreased
FACS T cells - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
190 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown FACS NK cells - decreased
hematopoietic system
immune system
191 UTSW Kcnj8 sos 6 142564939-142571356 bp (-) 142565927 Unknown (1;0) cardiovascular system
homeostasis/metabolism
immune system
lethality-postnatal
TLR signaling defect: hypersensitivity to LPS
192 UTSW Slc5a2 jimbee 7 128265657-128272430 bp (+) Unknown (1;0) DSS: sensitive day 7
immune system
renal/urinary system
193 APN Muc2 kenny 7 141690340-141754693 bp (+) Unknown inflammatory bowel disease phenotype
194 UTSW Bcl3 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
immune system
195 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (9;55)

Autosomal Semidominant (4;19)
125-03 Response - increased
FACS B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS macrophages - increased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
196 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
197 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
Autosomal Semidominant (1;5)
FACS B1 cells - decreased
FACS B1b cells - decreased
FACS IgD MFI - decreased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
198 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) FACS B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
199 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown hematopoietic system
200 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
Autosomal Dominant (5;11)

Autosomal Recessive (4;14)


Autosomal Semidominant (6;17)
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
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