Phenotypic Mutations

50 mutations affecting 44 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 50 of 50] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
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Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Alms1 0.000 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (6;52)
 Autosomal Semidominant (1;5)
2018-12-07
Diantha La Vine
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
2 UTSW
has photo
Alms1 0.000 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (15;114)

 Autosomal Semidominant (3;10)
2018-12-07
Diantha La Vine
 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
 NK cell response - decreased
 NK killing - decreased
3 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (Male) - increased
 growth/size
4 UTSW Irf8 0.000 gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) 2018-11-29
Diantha La Vine
 cellular phenotype
 FACS CD8+ T cells - decreased
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
5 UTSW Ifnar1 0.000 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (7;30) 2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B:T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
6 UTSW Yap1 1.000 Puddel_hunde 9 7931999-8004596 bp (-) 8004284 Autosomal Semidominant (2;10) 2018-11-05
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
7 UTSW Tnfrsf13c 0.100 Tannin 15 82221743-82224369 bp (-) 82224207 Autosomal Dominant (2;8) 2018-10-25
Anne Murray
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
8 UTSW Ikzf1 0.833 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (12;110) 2018-10-25
Bruce Beutler
 Blood Pressure: HR Day 3 - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - 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 T cells - increased
9 UTSW Ryr2 1.000 Arruda 13 11553102-12106945 bp (-) 11643895 Autosomal Semidominant (1;5) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - increased
10 UTSW Ctss 0.154 clip 3 95526786-95556403 bp (+) 95545384 Autosomal Recessive (2;11) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
11 UTSW Rasgrp1 0.285 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
 Autosomal Semidominant (1;11)
2018-10-12
Diantha La Vine
 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
12 UTSW Ptprc 0.256 fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-10-05
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
13 UTSW Adamts20 0.239 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
14 UTSW
has photo
Adamts20 0.239 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
15 UTSW
has photo
Gk5 0.000 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (10;65)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 Body Weight (BP Female) - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
16 UTSW
has photo
Gk5 0.000 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
 Autosomal Semidominant (1;5)
2018-09-24
Anne Murray
 Blood Pressure: HR Day 1 - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
17 UTSW Pi4ka 1.000 pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (4;22)
 Autosomal Semidominant (3;12)
2018-09-21
Anne Murray
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ T cells - increased
 FACS central 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
 MTT Value of PECs - decreased
18 UTSW Tbx21 0.132 plateau 11 97098071-97115331 bp (-) 97101478 Autosomal Dominant (2;11)
 Autosomal Recessive (4;19)
2018-09-13
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (Female) - decreased
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
19 UTSW Nos3 0.679 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 2018-08-23
External Program
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 DSS: sensitive day 7
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
20 UTSW Ptpn6 0.477 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
 Autosomal Semidominant (6;34)
2018-08-21
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
21 UTSW Klf5 1.000 Bernie 14 99298691-99315036 bp (+) 99302230 Autosomal Semidominant (2;13) 2018-08-08
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
22 UTSW Slc45a2 0.154 galak 15 11000721-11029233 bp (+) 11012667 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
23 UTSW Nfkb1 0.622 Murgatroyd 3 135584655-135691547 bp (-) 135626710 Autosomal Dominant (1;11) 2018-07-20
Anne Murray
 FACS B1 cells - decreased
24 UTSW Pnp 0.144 Porch 14 50931082-50965237 bp (+) 50950923 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
2018-07-18
Anne Murray
 30 Min. Insulin (Male) - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
25 UTSW
has photo
Ednrb 0.329 gus-gus 14 103814625-103844402 bp (-) 103820013 Autosomal Recessive (1;2) 2018-05-29
Anne Murray
 lethality-postnatal
 pigmentation
 skin/coat/nails
26 UTSW
has video
Mpz 0.183 taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
 behavior/neurological
27 UTSW Myo5a 0.869 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
28 UTSW Rims4 0.074 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) 2018-02-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
29 UTSW Tg 0.182 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
 OVA-specific IgE - increased
30 UTSW
has photo
Oca2 0.236 snowflake 7 56239760-56536518 bp (+) 56324680 Unknown 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
31 UTSW Nlrp3 0.050 Park2 11 59541568-59566956 bp (+) 59565128 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;5)
2017-11-11
Emre Turer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
32 UTSW Pik3r1 0.000 Rocket 13 101680563-101768217 bp (-) 101689444 Autosomal Dominant (6;31) 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 B220 MFI - decreased
 IgE response to a Cysteine Protease (Papain) - increased
33 UTSW Cd22 0.000 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (6;38) 2017-08-03
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
34 UTSW Tub 0.000 troy 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (6;30) 2017-06-16
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Female) - increased
 growth/size
35 UTSW Nlrp3 0.050 Park7 11 59541568-59566956 bp (+) 59548010 Autosomal Recessive (1;3)
 Autosomal Semidominant (2;12)
2017-03-02
Katherine Timer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 OVA-specific IgE - increased
36 UTSW Col6a2 0.115 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) 2017-01-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
37 UTSW
has photo
Fgf5 0.140 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (1;5) 2016-12-08
Anne Murray
 FACS B220 MFI - decreased
38 UTSW Myo5a 0.869 naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive (1;2) 2016-12-08
Anne Murray
 behavior/neurological
 pigmentation
 skin/coat/nails
39 UTSW
has photo
Tyrp1 0.230 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
 Autosomal Recessive (1;1)
2016-12-07
Anne Murray
 MCMV resistance
 pigmentation
 skin/coat/nails
40 UTSW
has video
Pcdh15 0.300 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive (1;2) 2016-11-21
Katherine Timer
 behavior/neurological
 hearing/vestibular/ear
41 UTSW Lck 0.000 lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (11;60)
 Autosomal Semidominant (2;8)
2016-10-31
Katherine Timer
 DSS: resistant day 10
 DSS: sensitive day 7
 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
 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
42 UTSW Sppl2a 0.368 abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
 Autosomal Semidominant (1;4)
2016-10-28
Anne Murray
 FACS central memory CD8 T cells in CD8 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
43 UTSW Vldlr 0.339 r26 19 27216484-27254231 bp (+) 27245654 Unknown 2016-09-20
Katherine Timer
 vision/eye
44 UTSW
has photo
Pax3 0.720 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
45 UTSW Flt3 0.000 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) 2016-05-13
Anne Murray
 FACS CD4:CD8 - increased
 growth/size
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
46 UTSW
has photo
Atp7a 0.425 Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
 lethality-embryonic/perinatal
 pigmentation
 skin/coat/nails
47 UTSW
has photo
Tmprss6 0.138 masquerade 15 78439667-78468634 bp (-) 78468000 Unknown 2016-05-13
Peter Jurek
 hematopoietic system
 homeostasis/metabolism
 iron deficiency
 reproductive system
 skin/coat/nails
48 UTSW Jak3 0.400 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
49 UTSW Col4a4 0.289 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
 digestive/alimentary
 hearing/vestibular/ear
 renal/urinary system
50 APN Atp11c 0.106 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
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