Phenotypic Mutations

602 mutations affecting 286 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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501 UTSW Gimap5 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
502 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Unknown 2016-05-13
Stephen Lyon
skin/coat/nails
503 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Unknown 2018-04-06
Diantha La Vine
hematopoietic system
immune system
504 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Unknown 2018-04-06
Diantha La Vine
hematopoietic system
immune system
505 UTSW Slc24a4 spindly 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (2;8) 2018-04-26
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
506 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Unknown 2016-12-08
Anne Murray
507 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
508 UTSW Ednrb sposh 14 103814625-103844173 bp (-) 103821714 Autosomal Recessive (1;4) 2018-03-28
Anne Murray
pigmentation
skin/coat/nails
509 UTSW Vldlr spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (3;21) 2018-02-22
Anne Murray
eye: chorioretinal lesions
eye: increase in BM to ELM thickness
eye: retinal cystic atrophy
vision/eye
510 UTSW
has video
Pcdh15 squirm 10 73099342-74649737 bp (+) Unknown 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
511 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown 2016-10-11
Bruce Beutler
DSS: sensitive day 7
pigmentation
skin/coat/nails
512 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38) 2017-02-23
Anne Murray
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
fasting hypoglycemia (female)
Pfizer: HOMA-IR - increased
vision/eye
513 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (2;19) 2018-02-01
Anne Murray
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
514 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) 2016-12-09
Katherine Timer
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
515 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive (13;138) 2018-01-03
External Program
DSS: resistant day 10
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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
516 UTSW Inpp5d 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
517 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
hematopoietic system
518 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
 Autosomal Recessive (7;47)

 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 IgD+ B cell percentage - decreased
FACS macrophages - increased
immune system
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
519 UTSW Bcl3 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
immune system
520 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Unknown 2018-03-06
Diantha La Vine
adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
521 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;12)
2017-01-31
Anne Murray
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
immune system
522 UTSW Ighd 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
immune system
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: TNF production by macrophages
523 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
behavior/neurological
524 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant (2;11) 2017-05-24
Katherine Timer
125-03 Response - decreased
immune system
phagocytosis in PECs - increased
525 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
526 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 1902-09-28
Anne Murray
30 min GTT hyperglycemic
527 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20)
2018-04-27
Anne Murray
FACS B1b cells - decreased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
528 UTSW Vav1 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-06-13
Anne Murray
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
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
529 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
530 UTSW
has photo
Kbtbd2 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
immune system
liver/biliary system
531 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
2016-08-12
Bruce Beutler
Body Weight (DSS Female) - decreased
Circadian rhythm
Circadian Tau Chi Squared Periodogram - increased
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
immune system
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
532 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) 2016-05-13
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
533 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
534 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown 2016-05-13
Bruce Beutler
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
535 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2016-05-13
Peter Jurek
FACS CD8+ T cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
536 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown 2016-05-13
Stephen Lyon
growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
537 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
538 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown 2016-05-13
Peter Jurek
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
539 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
 Autosomal Recessive (3;23)
2016-05-13
Anne Murray
behavior/neurological
immune system
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
540 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
2016-11-01
Katherine Timer
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
541 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown 2016-05-13
Anne Murray
normal phenotype
542 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) 2016-11-01
Katherine Timer
DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
543 UTSW
has photo
Gk5 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
 Autosomal Recessive (2;5)
2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
immune system
skin/coat/nails
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
544 UTSW Gck tootsie 11 5900820-5950081 bp (-) 5909150 Unknown (2;0) 2018-04-20
Anne Murray
30 min GTT hyperglycemic
Pfizer: increase in 30 Min Glucose Residual
545 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) 2017-03-23
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
546 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) 2016-05-13
Stephen Lyon
immune system
RVFV susceptibility
skin/coat/nails
547 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 2018-04-25
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
548 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6) 2018-02-02
Anne Murray
immune system
OVA-specific IgE after 2nd OVA/Alum - increased
549 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Unknown 2017-08-08
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
550 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown 2018-05-22
Anne Murray
behavior/neurological
551 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
552 UTSW Tub troy 7 109010825-109034460 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
553 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (2;12) 2018-01-30
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
554 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) 2016-12-30
Katherine Timer
hematopoietic system
immune system
555 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
556 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5)
2017-03-03
Anne Murray
behavior/neurological
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
557 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
 Autosomal Semidominant (1;6)
2017-05-10
Katherine Timer
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
558 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Unknown (1;0)
 Autosomal Semidominant (2;27)
2018-01-31
Anne Murray
immune system
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
559 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Unknown 2017-09-08
Diantha La Vine
CD8 response - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
560 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
 Autosomal Recessive (9;108)

 Autosomal Semidominant (4;47)
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 B1b cells in B1 cells - increased
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 NK T cells - increased
FACS T cells - increased
immune system
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
561 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown 2016-05-13
Stephen Lyon
FACS NK cells - decreased
hematopoietic system
immune system
562 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) 2016-12-09
Katherine Timer
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
563 UTSW
has photo
Egfr Velvet 11 16752203-16918158 bp (+) 16904399 Unknown (1;0) 2016-11-10
Anne Murray
immune system
lethality-embryonic/perinatal
skin/coat/nails
touch/vibrissae
vision/eye
564 UTSW Rasgrp1 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (19;272) 2018-07-19
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+ 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 NK cells - increased
FACS T cells - decreased
immune system
565 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;4)
2017-09-15
Anne Murray
FACS B2 cells - increased
FACS IgD MFI - decreased
immune system
566 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
567 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Unknown (1;0) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
568 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) 2018-05-22
Anne Murray
Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK T cells - increased
immune system
innate fear - decreased
nervous system
pigmentation
skin/coat/nails
569 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 2016-05-13
Peter Jurek
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
570 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) 2016-07-13
Anne Murray
pigmentation
skin/coat/nails
571 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
572 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Unknown 2017-08-08
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
573 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Unknown (13;0)
 Autosomal Recessive (5;62)
2017-08-08
Diantha La Vine
dsDNA induced type I IFN production - increased
FACS B:T cells - 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 - 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 effector memory CD8 T cells in CD8 T cells - increased
FACS T cells - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
T-dependent humoral response defect- decreased antibody response to rSFV
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
574 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
 Autosomal Semidominant (1;4)
2017-08-29
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 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+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
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+ B cell percentage - increased
FACS IgM+ B 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
OVA-specific IgE - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
575 UTSW Zap70 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (21;366) 2017-08-09
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
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 IgD+ B cell percentage - increased
FACS IgM+ B 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
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
576 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
577 UTSW
has photo
Adamts20 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-03-13
Anne Murray
pigmentation
skin/coat/nails
578 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 2017-08-08
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - decreased
FACS T cells - decreased
579 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown 2016-11-10
Anne Murray
skin/coat/nails
vision/eye
580 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
 Autosomal Semidominant (2;8)
2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
limbs/digits/tail phenotype
581 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown 2017-08-03
Diantha La Vine
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
582 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown 2018-04-06
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
583 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5;44) 2016-09-22
Anne Murray
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
584 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown 2016-05-13 pigmentation
skin/coat/nails
585 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Unknown 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
586 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
587 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown 2017-09-13
Diantha La Vine
DSS: sensitive day 7
immune system
588 UTSW Agtpbp1 wobble 13 59449537-59585227 bp (-) 59474550 Autosomal Recessive (9;27) 2018-04-20
Anne Murray
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 1 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
589 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
behavior/neurological
590 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) 2016-05-13
External Program
FACS IgD MFI - decreased
immune system
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS IgD MFI - decreased
591 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Unknown (1;0) 2016-11-10
Anne Murray
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
592 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown 2017-04-11
Katherine Timer
skin/coat/nails
593 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Unknown (2;0) 2016-05-13
Stephen Lyon
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
594 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown 2017-03-28
Katherine Timer
FACS B cells - decreased
immune system
595 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
596 UTSW Malt1 yellowstone 18 65430963-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 2016-05-13
Anne Murray
immune system
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
597 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
2017-08-03
Diantha La Vine
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 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 - increased
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
598 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 2018-03-02
Diantha La Vine
skin/coat/nails
599 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (1;0)
 Autosomal Dominant (3;12)
2016-09-22
Anne Murray
immune system
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
600 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
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