Phenotypic Mutations

624 mutations affecting 296 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 2018-08-13
External Program
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
2 UTSW Ikbkb Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (7;30)
2018-08-08
External Program
125-03 Response - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
immune system
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
3 UTSW Elmo1 Edinburg 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
2018-08-08
Anne Murray
FACS B cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Elmo1 sesame 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (5;19)
2018-08-08
Anne Murray
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
5 UTSW Ntmt1 puny 2 30807826-30823033 bp (+) 30822365 Autosomal Recessive (7;49) 2018-08-08
Anne Murray
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS IgD MFI - decreased
immune system
Nlrc4 inflammasome: high response
6 UTSW Klf5 Bernie 14 99298691-99315036 bp (+) 99302230 Autosomal Semidominant (2;13) 2018-08-08
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
7 UTSW
has photo
Kitl gregory 10 100015630-100100416 bp (+) 100076906 Unknown 2018-08-06
Anne Murray
pigmentation
skin/coat/nails
8 UTSW
has photo
Kitl mooyah 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) 2018-08-06
Anne Murray
pigmentation
skin/coat/nails
9 UTSW
has photo
Lyst charcoal 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) 2018-08-02
Anne Murray
pigmentation
skin/coat/nails
10 UTSW Lyst souris 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) 2018-08-02
Diantha La Vine
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
11 UTSW
has photo
Lyst vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (6;23) 2018-08-02
Diantha La Vine
Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK T cells - increased
immune system
innate fear - decreased
nervous system
pigmentation
skin/coat/nails
12 UTSW
has photo
Lyst 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (9;84) 2018-08-02
Diantha La Vine
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS pDCs - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
post-MCMV FACS B1 cells - increased
skin/coat/nails
13 UTSW Lyst Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 2018-08-02
Diantha La Vine
125-03 Response - decreased
immune system
phagocytosis in PECs - increased
14 UTSW Lyst lightspeed 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
immune system
MCMV susceptibility
15 UTSW
has photo
Lyst charlotte_gray 13 13590397-13778803 bp (+) 13602026 Unknown 2018-08-02
Diantha La Vine
pigmentation
skin/coat/nails
16 UTSW
has photo
Lyst charzard 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) 2018-08-02
Diantha La Vine
pigmentation
skin/coat/nails
17 UTSW Lyst robin 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
pigmentation
skin/coat/nails
18 UTSW Mlh1 andalusia 9 111228228-111271791 bp (-) 111271410 Autosomal Recessive (1;6) 2018-08-02
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
19 UTSW Mlh1 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 2018-08-02
Anne Murray
FACS B:T cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
20 UTSW Mlh1 andalusia2 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (1;7) 2018-08-02
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW
has photo
Slc45a2 goku 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) 2018-08-02
Anne Murray
pigmentation
skin/coat/nails
22 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
23 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
24 UTSW
has photo
Slc45a2 june_gloom 15 11000721-11029233 bp (+) 11023443 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
25 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
26 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
27 UTSW Slc45a2 grey_goose 15 11000721-11029233 bp (+) 11002981 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
28 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
29 UTSW
has photo
Slc45a2 Draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
30 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
31 UTSW Tg ito4 15 66670753-66850721 bp (+) 66696520 Autosomal Recessive (14;85) 2018-08-01
Anne Murray
Body Weight (DSS) - decreased
Bone: Fat Mass - decreased
Bone: Femur Length - decreased
Bone: Fore Hip Distance - decreased
Bone: Lean Fat Ratio - increased
Bone: Lean Mass - decreased
Bone: Pelvis Length - decreased
Bone: Tibia Length - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
total IgE level - increased
32 UTSW Bbs9 corpulent 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
 Autosomal Recessive (14;145)
2018-08-01
Anne Murray
Body Weight - increased
Body Weight (BP Female) - increased
Body Weight (BP Male) - increased
Body Weight (BP) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Bone: Fat Mass - increased
Bone: Fat Mass (female) - increased
Bone: Fat Mass (male) - increased
Bone: Hind Hip Distance (male) - increased
Bone: Lean Fat Ratio - decreased
Bone: Pelvis Length - decreased
Bone: Tibia Length - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
33 UTSW Ptprc Dumpling 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (1;7)
 Autosomal Semidominant (4;29)
2018-08-01
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - decreased
FACS B220 MFI - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
34 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (48;478)
 Autosomal Semidominant (8;52)
2018-07-31
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T 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 CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
Pfizer: decrease in 30 Min glucose residual (male)
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS 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
total IgE level - decreased
35 UTSW Ptprc Half_measure 1 138062861-138175708 bp (-) 138071249 Autosomal Semidominant (2;9) 2018-07-31
Diantha La Vine
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
immune system
36 UTSW Ptprc guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (17;90)
 Autosomal Semidominant (2;10)
2018-07-31
Diantha La Vine
DSS: sensitive day 7
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS T cells - decreased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
37 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown 2018-07-31
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
38 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown 2018-07-31
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
39 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-07-31
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
40 UTSW Siglecg shenandoah2 7 43408204-43418358 bp (+) 43412017 Autosomal Recessive (1;13)
 Autosomal Semidominant (3;12)
2018-07-30
Anne Murray
FACS B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
41 UTSW Siglecg Montblanc 7 43408204-43418358 bp (+) 43411386 Autosomal Recessive (1;8)
 Autosomal Semidominant (4;30)
2018-07-30
Anne Murray
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgM MFI - decreased
immune system
42 UTSW Tnip1 trinity 11 54910785-54962917 bp (-) 54939596 Autosomal Recessive (14;110)
 Autosomal Semidominant (4;17)
2018-07-30
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS NK cells - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
OVA-specific IgE - increased
total IgE level - increased
43 UTSW Siglecg Shenandoah 7 43408204-43418358 bp (+) 43408802 Autosomal Semidominant (1;13) 2018-07-30
Anne Murray
FACS B1 cells - increased
immune system
44 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown 2018-07-27
Diantha La Vine
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
45 UTSW Nlrp1a watermelon 11 71092236-71144704 bp (-) 71122705 Autosomal Recessive (23;138) 2018-07-27
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS NK cells - decreased
FACS T cells - decreased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
OVA-specific IgE - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: increase in fasting glucose residual (male)
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
46 UTSW Nlrp1a dreary 11 71092236-71144704 bp (-) 71113640 Autosomal Recessive (8;45) 2018-07-27
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
fasting hypoglycemia
fasting hypoglycemia (male)
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
47 UTSW Dicer1 everest 12 104687742-104751952 bp (-) 104705128 Autosomal Recessive (12;106) 2018-07-27
Anne Murray
FACS B:T cells - increased
FACS B1 cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
48 UTSW Ttc21b plus-sized 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (2;18) 2018-07-27
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
49 UTSW Rasgrp1 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (17;317)
 Autosomal Semidominant (1;11)
2018-07-26
Anne Murray
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 cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
immune system
50 UTSW Mc4r Cetacean 18 66857715-66860472 bp (-) 66859180 Autosomal Semidominant (2;16) 2018-07-25
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
51 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
 Autosomal Semidominant (5;26)
2018-07-25
Diantha La Vine
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Pfizer: DyMA-IR - increased
Pfizer: HOMA-IR - increased
Total Cholesterol - increased
52 UTSW
has photo
Mc4r halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (4;28)
 Autosomal Semidominant (4;24)
2018-07-25
Diantha La Vine
125-03 Response - decreased
adipose tissue
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
growth/size
immune system
MTT Value of PECs - decreased
Pfizer: decrease in 30 Min Glucose Residual
Pfizer: decrease in 30 Min glucose residual (female)
T-dependent humoral response defect- increased antibody response to rSFV
53 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) 2018-07-25
Diantha La Vine
adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
54 UTSW
has photo
Mc4r southbeach 18 66857715-66860472 bp (-) 66859142 Unknown 2018-07-25
Diantha La Vine
adipose tissue
growth/size
55 UTSW Nfkb1 Murgatroyd 3 135584655-135691547 bp (-) 135626710 Autosomal Dominant (1;11) 2018-07-20
Anne Murray
FACS B1 cells - decreased
immune system
56 UTSW Ighe Allegra 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (3;13) 2018-07-20
Anne Murray
IgE response to a Cysteine Protease (Papain) - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
57 UTSW Nfkb1 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
 Autosomal Recessive (4;54)

 Autosomal Semidominant (4;25)
2018-07-20
Diantha La Vine
FACS B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T 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
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
58 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
 Autosomal Recessive (1;3)

 Autosomal Semidominant (2;8)
2018-07-20
Diantha La Vine
immune system
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
59 UTSW Nfkb1 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;18)
2018-07-20
Diantha La Vine
DSS: sensitive day 10
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
60 UTSW Ebf1 Oregano2 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (1;4)
 Autosomal Semidominant (2;10)
2018-07-20
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
immune system
61 UTSW Ebf1 crater_lake 11 44617317-45008091 bp (+) 44972908 Unknown (8;0) 2018-07-20
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
62 UTSW Ebf1 oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (11;84)
 Autosomal Semidominant (4;22)
2018-07-20
Diantha La Vine
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
63 UTSW Klhl6 blossom 16 19946496-19983037 bp (-) 19957139 Autosomal Recessive (4;26) 2018-07-20
Anne Murray
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
immune system
64 UTSW Klhl6 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (6;41)
2018-07-20
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
total IgE level - increased
65 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7)
2018-07-20
Anne Murray
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD44+ CD8 T cells - increased
growth/size
immune system
liver/biliary system
66 UTSW Rasgrp1 grouper 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (11;53)
 Autosomal Semidominant (1;4)
2018-07-19
Anne Murray
FACS B:T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
Pfizer: DyMA Residual (Male) - increased
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
67 UTSW Trpa1 petrified 1 14872648-14918862 bp (-) 14884116 Autosomal Recessive (1;7) 2018-07-19
Anne Murray
innate fear - decreased
nervous system
68 UTSW Trpa1 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
innate fear - decreased
nervous system
69 UTSW Pax5 k2 4 44524757-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-07-18
Anne Murray
FACS B220 MFI - decreased
FACS IgD MFI - decreased
immune system
70 UTSW Pax5 Glacier3 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 2018-07-18
Anne Murray
FACS IgD MFI - decreased
immune system
71 UTSW Pax5 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
2018-07-18
Anne Murray
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
72 UTSW Pax5 glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
 Autosomal Semidominant (1;7)
2018-07-18
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
immune system
73 UTSW Lig4 posey2 8 9969049-9977686 bp (-) 9971585 Autosomal Recessive (3;17) 2018-07-18
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
74 UTSW Lig4 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
 Autosomal Semidominant (2;8)
2018-07-18
Anne Murray
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - 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 IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
resistance to B10-F16 melanoma - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
75 UTSW Aicda creeper 6 122553801-122564180 bp (+) 122561867 Autosomal Recessive (2;17)
 Autosomal Semidominant (2;16)
2018-07-18
Anne Murray
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
76 UTSW Aicda bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (1;4)
 Autosomal Recessive (7;40)

 Autosomal Semidominant (1;9)
2018-07-18
Anne Murray
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
OVA-specific IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
total IgE level - decreased
77 UTSW Pnp porch2 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (19;130)
 Autosomal Semidominant (1;4)
2018-07-18
Anne Murray
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B220 MFI - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
78 UTSW Pnp Porch 14 50931082-50965237 bp (+) 50950923 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
2018-07-18
Anne Murray
30 Min. Insulin (Male) - decreased
immune system
Pfizer: DyMA Residual (Male) - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
79 UTSW Prkcd rigged2 14 30595354-30626210 bp (-) 30599743 Autosomal Recessive (2;11)
 Autosomal Semidominant (2;11)
2018-07-18
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
immune system
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
80 UTSW Prkcd Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;5)
2018-07-18
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
81 UTSW Syk Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (3;0) 2018-06-28
External Program
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
82 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown 2018-06-22
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
83 UTSW Slc13a5 punk2 11 72241989-72267222 bp (-) 72253391 Autosomal Recessive (3;16) 2018-06-19
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (HFD, 0 weeks) - decreased
84 UTSW Slc13a5 Punk 11 72241989-72267222 bp (-) 72262076 Autosomal Recessive (2;8)
 Autosomal Semidominant (2;10)
2018-06-15
Diantha La Vine
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
growth/size
85 UTSW Fnip1 hamel2 11 54438199-54518235 bp (+) 54502271 Autosomal Dominant (2;8)
 Autosomal Recessive (7;116)
2018-06-15
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS T cells - increased
immune system
86 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown 2018-06-15
Diantha La Vine
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
87 UTSW Dclre1c Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (3;14)

 Autosomal Semidominant (4;16)
2018-06-15
Anne Murray
Body Weight - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
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
FACS T cells - decreased
immune system
88 UTSW
has photo
Dclre1c pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (30;500) 2018-06-15
Anne Murray
Blood Pressure: SBP Average - decreased
Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
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+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK T cells - decreased
FACS T cells - decreased
growth/size
immune system
skin/coat/nails
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
total IgE level - increased
89 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (23;217) 2018-06-15
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
FACS NK T cells - decreased
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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
90 UTSW Vav1 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-06-13
Anne Murray
FACS B:T cells - increased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ 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 - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
91 UTSW Vav1 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) 2018-06-13
Anne Murray
FACS B1 cells - decreased
immune system
92 UTSW Itgb2 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (22;167) 2018-06-13
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ 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 IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS neutrophils - decreased
FACS NK T cells - increased
immune system
NK cell response - decreased
NK killing - decreased
total IgE level - increased
93 UTSW Itgb2 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) 2018-06-13
Anne Murray
dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
94 UTSW Tbk1 pioneer 10 121546455-121586787 bp (-) 121578690 Unknown 2018-06-13
Anne Murray
impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
95 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
behavior/neurological
96 UTSW
has photo
Ednrb gus-gus 14 103814625-103844402 bp (-) 103820013 Autosomal Recessive (1;2) 2018-05-29
Anne Murray
lethality-postnatal
pigmentation
skin/coat/nails
97 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-05-24
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
growth/size
98 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) 2018-05-22
Anne Murray
immune system
lethality-postnatal
skin/coat/nails
99 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
behavior/neurological
100 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
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