Phenotypic Mutations

41 mutations affecting 41 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 41 of 41] per page Full List
 
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1 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
2019-01-05
Diantha La Vine
 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
2 UTSW Hcn2 0.542 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (13;80) 2018-12-20
Anne Murray
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS T cells - increased
 Motor: Rotarod Weight - decreased
3 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11879496 Autosomal Dominant (1;4)
 Autosomal Recessive (14;60)

 Autosomal Semidominant (3;23)
2018-12-14
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
4 UTSW Gimap1 0.055 6 48739054-48743795 bp (+) 48743098 Autosomal Recessive (6;58) 2018-12-12
Anne Murray
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
5 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
6 UTSW Pparg 1.000 6 115360951-115490399 bp (+) 115451044 Autosomal Dominant (3;12) 2018-10-25
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (Female) - decreased
 growth/size
7 UTSW Cdh23 0.000 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
8 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94326699 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
9 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (3;29)

 Autosomal Semidominant (3;13)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 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+ 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 CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 OVA-specific IgE - increased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
10 UTSW Ly96 0.164 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (6;33) 2018-09-06
Anne Murray
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
11 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11025935 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
12 UTSW Bbs9 0.557 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
 Autosomal Recessive (12;125)
2018-08-01
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
13 UTSW Fnip1 0.680 11 54438199-54518235 bp (+) 54502271 Autosomal Dominant (2;8)
 Autosomal Recessive (6;60)
2018-06-15
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 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
14 UTSW Scn8a 0.811 15 100869858-101045938 bp (+) 101013504 Unknown 2018-05-22
Anne Murray
 behavior/neurological
15 UTSW Themis 0.153 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) 2018-05-15
Anne Murray
 Blood Pressure: DBP Day 1 - increased
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 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+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
16 UTSW
has photohas video
Grm1 0.112 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) 2018-04-25
Anne Murray
 behavior/neurological
 growth/size
 life span-post-weaning/aging
 skeleton phenotype
17 UTSW Edar 0.427 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
 craniofacial
 limbs/digits/tail phenotype
 skin/coat/nails
18 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101728075 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
19 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive (8;51)
 Autosomal Semidominant (3;14)
2018-03-30
Diantha La Vine
 125-03 Response - increased
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 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
20 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (22;264) 2018-03-28
Diantha La Vine
 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 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
 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
21 UTSW
has video
Pcdh15 0.300 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10) 2018-02-02
Anne Murray
 behavior/neurological
 OVA-specific IgE after 2nd OVA/Alum - increased
22 UTSW
has photo
Ap3b1 0.470 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) 2018-01-15
Diantha La Vine
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
23 UTSW Gimap5 0.087 6 48746197-48754210 bp (+) 48752609 Unknown (2;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 inflammatory bowel disease phenotype
 lethality-postnatal
 life span-post-weaning/aging
 liver/biliary system
 MCMV susceptibility
 NK cell response - 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
24 UTSW
has photo
Fgf5 0.140 5 98254184-98277030 bp (+) 98254746 Unknown 2017-10-13
Anne Murray
 skin/coat/nails
25 UTSW Cd79a 0.126 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
 Autosomal Semidominant (1;5)
2017-09-15
Anne Murray
 FACS B1 cells - decreased
 FACS B1b cells - decreased
 FACS IgD MFI - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
26 UTSW Muc2 0.073 7 141690340-141754693 bp (+) 141695682 Unknown (1;0) 2017-09-13
Diantha La Vine
 immune system
27 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140883782 Autosomal Dominant (1;4)
 Autosomal Recessive (9;108)

 Autosomal Semidominant (5;51)
2017-09-08
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B:T cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS NK T cells - increased
 FACS 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
28 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62) 2017-09-04
Diantha La Vine
 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 naive CD8 T cells in CD8 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
29 UTSW Rac2 0.110 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
 Autosomal Semidominant (1;6)
2017-08-09
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
30 UTSW Tnf 0.775 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) 2017-04-18
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
31 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) 2016-11-10
Anne Murray
 immune system
 TLR signaling defect: TNF production by macrophages
32 UTSW Smtn 0.476 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;5)
2016-11-08
Anne Murray
 Body Weight - decreased
 growth/size
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
33 UTSW Unc13d 0.147 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
34 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3745330 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (5;26)
2016-09-19
Anne Murray
 FACS B1 cells - increased
 FACS CD11c+ DCs - increased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS macrophages - increased
 FACS NK cells - decreased
 FACS T cells - decreased
35 UTSW
has photo
Atp7a 0.425 X 106027276-106124926 bp (+) 106088407 Unknown 2016-05-13
Stephen Lyon
 growth/size
 lethality-embryonic/perinatal
 lethality-postnatal
 pigmentation
 skin/coat/nails
36 APN Cd4 0.000 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
37 UTSW Myo5a 0.869 9 75071015-75223688 bp (+) 75164195 Unknown 2016-05-13
Stephen Lyon
 behavior/neurological
 lethality-postnatal
 life span-post-weaning/aging
 nervous system
 pigmentation
 skin/coat/nails
38 UTSW Rag1 0.504 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) 2016-05-13
Stephen Lyon
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
 RVFV susceptibility
39 UTSW Naip5 0.071 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) 2016-05-13
Anne Murray
 Nlrc4 inflammasome: low response
40 UTSW
has photo
Scd1 0.929 19 44394451-44407709 bp (-) 44400330 Unknown 2016-05-13
Stephen Lyon
 endocrine/exocrine gland
 immune system
 skin/coat/nails
41 UTSW
has photo
Ap3d1 0.538 10 80706956-80742264 bp (-) 80730042 Autosomal Semidominant (1;0) 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
[records 1 to 41 of 41]