Phenotypic Mutations

583 mutations affecting 277 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW Tlr7 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
2 UTSW Tlr7 rsq2 X 167304929-167330558 bp (-) 167307945 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
3 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown normal phenotype
4 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown lethality-embryonic/perinatal
pigmentation
skin/coat/nails
5 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
6 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
7 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Unknown (1;0) DSS: sensitive day 7
immune system
8 UTSW Ikbkg panr2 X 74393290-74453854 bp (+) 74437222 Unknown (2;0) immune system
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: TNF production by macrophages
9 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
10 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
11 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0)
12 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
13 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
14 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 Unknown growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
15 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown DSS: sensitive day 7
pigmentation
skin/coat/nails
16 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown endocrine/exocrine gland
immune system
skin/coat/nails
17 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
18 UTSW Pik3ap1 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 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
19 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 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
20 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
immune system
21 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Unknown vision/eye
22 UTSW Vldlr spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (4;33) eye: chorioretinal lesions
eye: decrease in ONL thickness
eye: increase in BM to ELM thickness
eye: retinal cystic atrophy
vision/eye
23 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (8;34)
Autosomal Semidominant (1;4)
eye: fundus spots
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ 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 OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
24 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
25 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
26 UTSW
has video
Rorb grasshopper 19 18930605-19111196 bp (-) 19110557 Unknown behavior/neurological
27 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown behavior/neurological
28 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) behavior/neurological
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Circadian Power FFT - decreased
Circadian rhythm
Circadian Tau Activity Onset - increased
Circadian Tau DD by eye - increased
Circadian Wheel Revs/24H - decreased
innate fear - decreased
limbs/digits/tail phenotype
nervous system
29 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
30 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Unknown (2;0) DSS: sensitive day 7
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
31 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown FACS B cells - decreased
immune system
32 UTSW Lrp5 r18 19 3584828-3686564 bp (-) Unknown vision/eye
33 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
34 UTSW
has photo
Mc4r halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (4;28)
Autosomal Semidominant (4;24)
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
35 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Pfizer: DyMA-IR - increased
Pfizer: HOMA-IR - increased
Total Cholesterol - increased
36 UTSW
has photo
Mc4r Southbeach 18 66857715-66860472 bp (-) 66859142 Unknown adipose tissue
growth/size
37 UTSW Malt1 mousebird 18 65430963-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
Autosomal Semidominant (1;6)
immune system
post-MCMV FACS B1b cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - 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
38 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
Autosomal Semidominant (1;3)
FACS CD8a+ DCs (gated in CD11c+ 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
39 UTSW Malt1 yellowstone 18 65430963-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 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
40 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive (1;9) Novelty: Total Activity - increased
41 UTSW Ticam2 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (4;14) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
42 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
43 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
44 UTSW Kcnn2 jitter 18 45268860-45685887 bp (+) 45561253 Unknown behavior/neurological
45 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) immune system
lethality-postnatal
skin/coat/nails
46 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 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 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
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
47 UTSW Diaph1 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
FACS B1 cells - decreased
FACS CD8+ T cells - decreased
FACS T cells - decreased
immune system
48 UTSW Diaph1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5)

Autosomal Semidominant (8;34)
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 MFI - 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
immune system
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
49 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
50 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) skin/coat/nails
51 UTSW Zeb1 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (2;9) 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
52 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
53 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
54 UTSW Map3k8 juicy 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (2;7) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
55 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
56 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
Autosomal Dominant (1;3)

Autosomal Recessive (5;24)


Autosomal Semidominant (4;16)
FACS B1 cells - increased
hyposensitivity to TLR CpGODN + IFNg
IgE response to a Cysteine Protease (Papain) - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
57 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) immune system
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
58 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
59 UTSW Nlrc4 inwood 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) immune system
Nlrc4 inflammasome: low response
60 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
61 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown FACS macrophages - decreased
62 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) FACS macrophages - decreased
immune system
63 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) FACS macrophages - decreased
immune system
64 UTSW Vav1 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
Autosomal Semidominant (2;23)
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
65 UTSW Vav1 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) FACS B1 cells - decreased
immune system
66 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
67 UTSW Ticam1 Lps2 17 56269319-56276786 bp (-) 56271577 Unknown (2;0) DSS: sensitive day 7
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
68 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (1;0)
Autosomal Dominant (3;12)
immune system
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
69 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) FACS IgD MFI - decreased
immune system
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS IgD MFI - decreased
70 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 30 min GTT hyperglycemic
71 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
72 UTSW Tnf Panr1 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
73 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
Autosomal Semidominant (1;4)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - 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 CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
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 - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA Residual (Female) - increased
74 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - 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
immune system
75 UTSW Tap1 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
Autosomal Recessive (6;35)

Autosomal Semidominant (1;6)
FACS CD4:CD8 - increased
immune system
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
76 APN Tap1 rose 17 34187553-34197225 bp (+) 34194940 Unknown FACS CD8+ T cells - decreased
hematopoietic system
immune system
77 UTSW Tap1 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
78 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Unknown vision/eye
79 UTSW Tap2 ganymede 17 34203527-34216321 bp (+) Unknown (1;0) CTL killing - decreased
FACS CD8+ T cells - decreased
immune system
NK cell response - decreased
80 UTSW Ifnar1 macro-1 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) adenovirus infection of macrophages - increased
immune system
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
MCMV susceptibility
RVFV proliferation in macrophages - increased
81 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (10;42) dsDNA induced type I IFN production - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
82 UTSW Ifnar2 macro-2 16 91372783-91405589 bp (+) 91383899 Unknown (3;0) adenovirus infection of macrophages - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
RVFV proliferation in macrophages - increased
RVFV susceptibility
83 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (23;272) Body Weight - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - 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 IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
84 UTSW Prkdc screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
immune system
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ T cells - increased
85 UTSW Prkdc Screamer10 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant (1;4) immune system
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
86 UTSW Prkdc screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) FACS effector memory CD4 T cells in CD4 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
87 UTSW Prkdc liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (23;359) Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - 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 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
Motor: Rotarod Training 3 - increased
88 UTSW Prkdc screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) FACS B cells - decreased
FACS B1b cells - increased
FACS neutrophils - increased
immune system
89 UTSW Prkdc Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) FACS CD8+ T cells in CD3+ T cells - decreased
immune system
90 UTSW Prkdc Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
Autosomal Semidominant (3;12)
immune system
post-MCMV FACS B cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS IgD+ B cell percentage - increased
post-MCMV FACS IgM+ B cells - increased
91 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
92 UTSW Prkdc screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (7;39) immune system
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ CD8 T cells - increased
post-MCMV FACS CD44+ T cells - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
93 UTSW Prkdc screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
FACS CD44+ CD4 T cells - increased
immune system
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS pDCs - increased
94 UTSW Prkdc screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
Autosomal Semidominant (1;4)
Body Weight - decreased
Body Weight (DSS) - decreased
FACS IgD MFI - 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
95 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - 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 R848
TLR signaling defect: TNF production by macrophages
96 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
Circadian Final Body Weight - decreased
Circadian rhythm
growth/size
97 UTSW
has video
Scn8a nymph 15 100870683-101045929 bp (+) 101035646 Unknown (1;0)
Autosomal Recessive (1;5)
behavior/neurological
Body Weight - decreased
growth/size
98 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) behavior/neurological
99 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown behavior/neurological
100 UTSW Irak4 otiose 15 94543643-94581815 bp (+) 94561484 Unknown (2;0) 125-03 Response - increased
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
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