Phenotypic Mutations

684 mutations affecting 330 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 501 to 600 of 686] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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501 UTSW Tlr7 0.129 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
502 UTSW Tlr7 0.129 rsq2 X 167304929-167330558 bp (-) 167307945 Unknown (1;0) 2016-05-13
Stephen Lyon
 immune system
 TLR signaling defect: TNF production by macrophages
503 UTSW
has photo
Tyr 0.346 rufus 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) 2016-12-08
Anne Murray
 pigmentation
 skin/coat/nails
504 UTSW Irs1 0.401 runt 1 82233101-82291416 bp (-) 82287732 Unknown (1;0)
 Autosomal Recessive (4;15)
2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 Fasting Insulin - increased
505 UTSW Irs1 0.401 runt2 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (6;32) 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
506 UTSW Smtn 0.476 runtish 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
507 UTSW Inpp5d 0.914 Sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
 Autosomal Recessive (3;21)
2017-10-20
Anne Murray
 125-03 Response - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
508 UTSW
has photo
Dtnbp1 0.000 salt_and_pepper 13 44922075-45002147 bp (-) 44941438 Unknown (2;0) 2016-05-13
Stephen Lyon
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
509 UTSW Socs2 0.130 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
510 APN Rc3h1 0.299 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown 2016-05-13
Peter Jurek
 autoimmunity
 immune system
511 UTSW Hcfc2 0.220 Scaffold 10 82696160-82742428 bp (+) 82738408 Unknown (2;0) 2017-10-05
Anne Murray
 TLR signaling defect: TNF production by macrophages
512 UTSW Adgre1 0.247 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 2017-12-19
Anne Murray
 FACS macrophages - decreased
513 UTSW Zbtb1 0.647 scant 12 76370266-76396950 bp (+) 76385461 Unknown 2016-05-13
Stephen Lyon
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
514 UTSW Muc2 0.073 Schlendrian 7 141690340-141754693 bp (+) 141695682 Unknown (1;0) 2017-09-13
Diantha La Vine
 immune system
515 UTSW Prkdc 0.976 screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (21;259) 2018-03-28
Diantha La Vine
 Body Weight - decreased
 FACS B cells - decreased
 FACS B1 cells - increased
 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
516 UTSW Prkdc 0.976 Screamer10 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
517 UTSW Prkdc 0.976 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
 Autosomal Semidominant (1;4)
2018-03-28
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 FACS IgD MFI - 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
518 UTSW Prkdc 0.976 screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) 2018-03-28
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
519 UTSW Prkdc 0.976 screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-03-28
Diantha La Vine
 post-MCMV FACS CD44+ CD4 T cells - increased
 post-MCMV FACS CD44+ T cells - increased
520 UTSW Prkdc 0.976 screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (7;39) 2018-03-28
Diantha La Vine
 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
521 UTSW Prkdc 0.976 screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) 2018-03-28
Diantha La Vine
 FACS effector memory CD4 T cells in CD4 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
522 UTSW Prkdc 0.976 screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;6)
2018-03-28
Diantha La Vine
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS pDCs - increased
523 UTSW Prkdc 0.976 Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
 Autosomal Semidominant (3;12)
2018-03-28
Diantha La Vine
 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
524 UTSW Prkdc 0.976 Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 FACS CD8+ T cells in CD3+ T cells - decreased
525 UTSW Col1a1 1.000 seal 11 94936224-94953042 bp (+) 94947184 Unknown 2017-05-02
Katherine Timer
 behavior/neurological
 skeleton phenotype
526 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
527 UTSW Mlkl 0.094 secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) 2016-09-16
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to CpG + IFNg
528 UTSW Zeb1 0.774 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (1;3) 2016-05-13
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
529 UTSW Elmo1 0.000 sesame 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (5;19)
2018-08-08
Anne Murray
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
530 APN Cd4 0.000 seshat 6 124864692-124888221 bp (-) 124872977 Unknown 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
531 UTSW
has photo
Egfr 0.891 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 2016-05-13
Anne Murray
 30 min GTT hypoglycemic (male)
 skin/coat/nails
532 UTSW Grm7 0.000 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) 2018-05-22
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
533 UTSW Diaph1 0.000 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 - 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
 MCMV susceptibility
534 UTSW Siglecg 0.087 Shenandoah 7 43408204-43418358 bp (+) 43408802 Autosomal Semidominant (1;13) 2018-07-30
Anne Murray
 FACS B1 cells - increased
535 UTSW Siglecg 0.087 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
536 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
537 UTSW
has photo
Tyr 0.346 siamese 7 87424771-87493512 bp (-) 87438044 Unknown 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
538 UTSW Myo5a 0.869 silver_decerebrate 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
539 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
540 UTSW Rhbdf2 0.000 sinecure 11 116598165-116627019 bp (-) 116602260 Unknown (1;0) 2017-04-06
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
541 UTSW Krt25 0.137 Sinuous 11 99315516-99322951 bp (-) 99322630 Unknown 2016-05-13
Stephen Lyon
 skin/coat/nails
542 UTSW Ciita 0.186 sisal 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4)
2017-05-12
Anne Murray
 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
 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
543 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (1;0)
 Autosomal Dominant (1;4)
2018-06-28
External Program
 FACS B cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
544 UTSW Slx4 1.000 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) 2017-05-12
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 growth/size
545 UTSW Map3k8 0.000 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) 2017-09-11
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
546 UTSW
has photo
Hps5 0.253 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) 2016-12-08
Anne Murray
 pigmentation
 skin/coat/nails
547 UTSW Itga11 0.151 sneezy 9 62677826-62783982 bp (+) 62732109 Autosomal Recessive (2;14) 2017-05-12
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
548 UTSW Rag2 0.295 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (14;92)
 Autosomal Semidominant (1;4)
2017-05-17
Anne Murray
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 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
549 UTSW Dock8 0.178 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (6;27) 2017-05-17
Anne Murray
 FACS CD4+ T cells - decreased
 FACS CD8+ 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 OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
550 UTSW
has photo
Oca2 0.236 snowflake 7 56239760-56536518 bp (+) 56324680 Unknown 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
551 UTSW Pik3ap1 0.000 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 2018-02-02
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
552 UTSW
has photo
Lyst 0.466 sooty 13 13590397-13778803 bp (+) Unknown (1;0) 2016-05-13
Eva Marie Y. Moresco
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
553 UTSW Kcnj8 1.000 sos 6 142564837-142571614 bp (-) 142565927 Unknown (1;0) 2016-05-13
Stephen Lyon
 cardiovascular system
 homeostasis/metabolism
 immune system
 lethality-postnatal
 TLR signaling defect: hypersensitivity to LPS
554 UTSW Pik3ap1 0.000 sothe 19 41274218-41385070 bp (-) 41356683 Unknown 2018-10-25
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
555 UTSW Lyst 0.466 souris 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) 2018-08-02
Diantha La Vine
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
556 UTSW
has photo
Mc4r 0.062 southbeach 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
557 UTSW
has photo
Fa2h 0.261 sparse 8 111345135-111393824 bp (-) 111355398 Unknown 2018-09-19
Anne Murray
558 UTSW
has video
Pcdh15 0.300 spaz 10 73099342-74649737 bp (+) 74210425 Unknown 2018-04-25
Anne Murray
559 UTSW Stat1 0.000 special 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (6;39)
 Autosomal Recessive (15;194)

 Autosomal Semidominant (3;33)
2018-04-04
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 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 - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 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 - decreased
 FACS NK T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
560 UTSW Atp11c 0.106 spelling X 60223290-60592698 bp (-) 60290036 Unknown 2016-05-13
Stephen Lyon
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 liver/biliary system
 reproductive system
561 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
562 UTSW Gimap5 0.087 sphinx 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
563 UTSW
has photo
Krt33a 0.108 Spikey 11 100011195-100016212 bp (-) 100011939 Unknown 2016-05-13
Stephen Lyon
 skin/coat/nails
564 UTSW
has photo
Ptpn6 0.477 spin 6 124720707-124738714 bp (-) 124728559 Unknown 2018-04-06
Diantha La Vine
 hematopoietic system
 immune system
565 UTSW
has photo
Ptpn6 0.477 spin2 6 124720707-124738714 bp (-) 124732369 Unknown 2018-04-06
Diantha La Vine
 hematopoietic system
 immune system
566 UTSW Slc24a4 0.000 spindly 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (2;8) 2018-04-26
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
567 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
568 UTSW Adamts20 0.239 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
569 UTSW Ednrb 0.329 sposh 14 103814625-103844402 bp (-) 103821714 Autosomal Recessive (1;4) 2018-03-28
Anne Murray
 pigmentation
 skin/coat/nails
570 UTSW Vldlr 0.339 spotty 19 27216484-27254231 bp (+) 27238792 Unknown 2018-02-22
Anne Murray
 vision/eye
571 UTSW
has video
Pcdh15 0.300 squirm 10 73099342-74649737 bp (+) Unknown 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
572 UTSW Hps6 0.000 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
573 UTSW Ikzf1 0.833 Star_lord 11 11685003-11772926 bp (+) 11769448 Autosomal Dominant (13;97) 2018-10-25
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 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 - increased
574 UTSW Impdh1 0.307 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (5;34) 2017-02-23
Anne Murray
 Body Weight (Male) - increased
 vision/eye
575 UTSW Cngb1 1.000 stevie 8 95239045-95306585 bp (-) 95260130 Unknown 2018-02-01
Anne Murray
 vision/eye
576 UTSW Pik3cd 0.864 stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) 2016-12-09
Katherine Timer
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
577 UTSW Lck 0.000 stromberg 4 129548344-129573641 bp (-) 129555640 Autosomal Recessive (12;133) 2018-01-03
External Program
 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+ 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 - 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
578 UTSW Stk4 0.000 stryker 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (24;227)
 Autosomal Semidominant (1;8)
2018-09-21
Anne Murray
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 IgD MFI - decreased
 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
 Fasting Insulin (Female) - increased
 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) - increased
579 UTSW Inpp5d 0.914 styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 growth/size
 hematopoietic system
 homeostasis/metabolism
 immune system
 life span-post-weaning/aging
 respiratory system
580 UTSW Atp4a 0.133 sublytic 7 30712209-30725534 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
 hematopoietic system
581 UTSW Mdm4 1.000 Sun_island 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (7;60) 2018-10-25
Anne Murray
 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
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
582 UTSW Bcl3 0.000 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
 Autosomal Recessive (8;51)

 Autosomal Semidominant (3;15)
2018-03-30
Diantha La Vine
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 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
583 UTSW Bcl3 0.000 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 2018-04-04
Anne Murray
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
584 UTSW
has photo
Samd4 0.590 supermodel 14 46882854-47105815 bp (+) 47016337 Unknown 2018-03-06
Diantha La Vine
 adipose tissue
 growth/size
 homeostasis/metabolism
 skeleton phenotype
585 UTSW Ighd 0.084 Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4) 2017-01-31
Anne Murray
 FACS IgD MFI - decreased
586 UTSW Ighd 0.084 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;5)
2018-02-02
Anne Murray
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: TNF production by macrophages
587 UTSW Grid2 0.000 swagger 6 63255876-64704323 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
 behavior/neurological
588 UTSW Lyst 0.466 Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 2018-08-02
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
589 UTSW Slc45a2 0.154 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
590 UTSW Adgrf5 0.139 sweetie 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 1902-09-28
Anne Murray
 30 min GTT hyperglycemic
591 UTSW
has photo
Sema4c 1.000 swirl 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
592 UTSW Gk5 0.000 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20)
2018-09-24
Anne Murray
 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
593 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
594 UTSW Vav1 0.256 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-10-25
Diantha La Vine
 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
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
595 UTSW
has video
Mpz 0.183 taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
 behavior/neurological
596 UTSW
has photo
Kbtbd2 0.000 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7)
2018-07-20
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD44+ CD8 T cells - increased
 growth/size
 liver/biliary system
597 UTSW
has video
Galc 0.000 teeter 12 98202294-98259459 bp (-) 98259162 Autosomal Recessive (5;23)
 Autosomal Semidominant (2;12)
2018-10-05
Anne Murray
 behavior/neurological
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 3 - increased
 growth/size
598 UTSW Tnfrsf13c 0.100 Teton_range 15 82221743-82224369 bp (-) 82223154 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;13)
2018-08-20
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD8+ T cells - increased
599 UTSW Jak3 0.400 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
2016-08-12
Bruce Beutler
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 ratio of OVA-specific IgE over the total IgE - 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 level - decreased
600 UTSW Jak3 0.400 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
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