Phenotypic Mutations

43 mutations affecting 37 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 43 of 43] 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?

and
and
display


1 UTSW Tnfrsf13c tannin 15 82221743-82224369 bp (-) 82224207 Unknown (4;0) 2018-08-20
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
2 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
3 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
4 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
5 UTSW Rasgrp1 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
 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+ CD4 T cells - 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
6 UTSW Nfkb1 Murgatroyd 3 135584655-135691547 bp (-) 135626710 Autosomal Dominant (1;11) 2018-07-20
Anne Murray
FACS B1 cells - decreased
immune system
7 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
8 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
9 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
10 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
behavior/neurological
eye: optic nerve anomaly
11 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown 2018-05-22
Anne Murray
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
pigmentation
skin/coat/nails
12 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (7;30) 2018-05-08
Anne Murray
dsDNA induced type I IFN production - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS T cells - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
13 UTSW
has photo
Gk5 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
 Autosomal Semidominant (1;5)
2018-04-27
Anne Murray
Blood Pressure: HR Day 1 - increased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ 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 naive CD8 T cells in CD8 T cells - decreased
immune system
skin/coat/nails
14 UTSW
has photo
Gk5 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (10;65) 2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
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 central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
skin/coat/nails
15 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (16;118)

 Autosomal Semidominant (3;10)
2018-04-20
Anne Murray
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
16 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
 Autosomal Semidominant (2;9)
2018-04-20
Anne Murray
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
17 UTSW Ptpn6 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
 Autosomal Semidominant (6;34)
2018-04-09
Anne Murray
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
18 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
19 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
20 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) 2018-02-06
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
21 UTSW Tg ito 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
 Autosomal Recessive (3;18)
2018-01-15
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
immune system
OVA-specific IgE - increased
22 UTSW
has photo
Oca2 snowflake 7 56239760-56536518 bp (+) 56324680 Unknown 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
23 UTSW Nlrp3 Park2 11 59541568-59566956 bp (+) 59565128 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;5)
2017-11-11
Emre Turer
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
24 UTSW Pik3r1 Rocket 13 101680563-101768217 bp (-) 101689444 Unknown (9;0) 2017-09-15
Anne Murray
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - decreased
FACS B1b cells in B1 cells - increased
FACS B2 cells - increased
FACS B220 MFI - decreased
FACS NK T cells - decreased
immune system
Pfizer: DyMA Residual - increased
25 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) 2017-08-03
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
26 UTSW Tub troy 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (7;34) 2017-06-16
Bruce Beutler
adipose tissue
Body Weight - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Female) - increased
Circadian Final Body Weight - increased
Circadian rhythm
Circadian Tau Activity Onset - increased
growth/size
27 UTSW Nlrp3 Park7 11 59541568-59566956 bp (+) 59548010 Autosomal Semidominant (2;12) 2017-03-02
Katherine Timer
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
28 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) 2017-01-06
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
29 UTSW Myo5a naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive (1;2) 2016-12-08
Anne Murray
behavior/neurological
pigmentation
skin/coat/nails
30 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
 Autosomal Recessive (1;1)
2016-12-07
Anne Murray
immune system
MCMV resistance
pigmentation
skin/coat/nails
31 UTSW
has video
Pcdh15 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive (1;2) 2016-11-21
Katherine Timer
behavior/neurological
hearing/vestibular/ear
32 UTSW Nos3 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 2016-11-10
Anne Murray
DSS: sensitive day 7
immune system
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
33 UTSW Lck lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (12;64)
 Autosomal Semidominant (2;8)
2016-10-31
Katherine Timer
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
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
34 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (2;24)
 Autosomal Semidominant (1;4)
2016-10-28
Anne Murray
FACS central memory CD8 T cells in CD8 T cells - 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
35 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Unknown 2016-09-20
Katherine Timer
vision/eye
36 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
37 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) 2016-05-13
Anne Murray
FACS NK cells - decreased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
38 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
39 UTSW
has photo
Tmprss6 masquerade 15 78439667-78468634 bp (-) 78468000 Unknown 2016-05-13
Peter Jurek
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
40 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) 2016-05-13
Stephen Lyon
cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
41 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
 Autosomal Semidominant (1;5)
2016-05-13
Peter Jurek
cellular phenotype
FACS B cells - increased
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
hematopoietic system
immune system
42 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
43 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown 2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
[records 1 to 43 of 43]