Phenotypic Mutations

25 mutations affecting 25 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 25 of 25] per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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and
display


1 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
2 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
3 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
2018-05-22
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
lethality-postnatal
nervous system
4 UTSW
has photo
Lepr fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (35;440) 2018-05-08
Bruce Beutler
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
Body Weight (Male) - 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
5 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
pigmentation
skin/coat/nails
6 UTSW
has photo
Tshr freckle 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (3;14)
2018-04-25
Anne Murray
125-03 Response - decreased
125-03 Response - increased
Body Weight - decreased
endocrine/exocrine gland
growth/size
immune system
7 UTSW Slc6a3 Dopey2 13 73536747-73578672 bp (+) 73544817 Autosomal Semidominant (1;4) 2018-04-10
Anne Murray
Body Weight - decreased
8 UTSW Stat1 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (3;21) 2018-03-29
Diantha La Vine
fasting hyperglycemia (female)
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: increase in fasting glucose residual (female)
9 UTSW Prkdc liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (23;359) 2018-03-28
Anne Murray
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
10 UTSW
has photo
Adamts20 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-03-13
Anne Murray
pigmentation
skin/coat/nails
11 UTSW Trp53bp1 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (3;14) 2018-03-08
Diantha La Vine
FACS B:T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS IgD MFI - decreased
FACS T cells - decreased
immune system
12 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 2018-02-02
Anne Murray
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
13 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
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
14 UTSW Hcfc2 Minions 10 82696160-82742428 bp (+) 82739245 Unknown 2017-10-05
Anne Murray
TLR signaling defect: TNF production by macrophages
15 UTSW Pappa2 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2;11) 2017-09-12
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
16 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (3;10)


 Autosomal Semidominant (4;9)
2017-08-03
Diantha La Vine
FACS B1a 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 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
17 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) 2017-06-14
Katherine Timer
hyposensitivity to TLR CpGODN + IFNg
immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
18 UTSW Socs2 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
 Autosomal Semidominant (1;5)
2017-06-05
Bruce Beutler
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
growth/size
19 UTSW Itgax Adendritic 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
 Autosomal Semidominant (2;20)
2017-05-17
Katherine Timer
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
immune system
20 UTSW
has photo
Tyr rufus 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) 2016-12-08
Anne Murray
pigmentation
skin/coat/nails
21 UTSW Ern2 ernie3 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) 2016-11-10
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
22 UTSW Prf1 prime 10 61297833-61304680 bp (+) 61303722 Autosomal Recessive (1;5) 2016-05-13
Anne Murray
immune system
MCMV susceptibility
23 UTSW Lep potbelly2 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) 2016-05-13
Anne Murray
Body Weight - increased
Body Weight (DSS) - increased
growth/size
24 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) 2016-05-13
Anne Murray
skin/coat/nails
vision/eye
25 UTSW
has video
Tomt add 7 101898370-101906359 bp (-) 101902129 Unknown 2016-05-13
Stephen Lyon
behavior/neurological
hearing/vestibular/ear
nervous system
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