Phenotypic Mutations

602 mutations affecting 286 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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101 UTSW Ebf1 crater_lake 11 44617317-45008091 bp (+) 44972908 Unknown (8;0) 2018-07-20
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
102 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) 2016-05-13
Bruce Beutler
FACS CD4+ 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
103 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
behavior/neurological
growth/size
immune system
MCMV susceptibility
nervous system
104 UTSW Aicda creeper 6 122553801-122564180 bp (+) 122561867 Autosomal Recessive (2;17)
 Autosomal Semidominant (2;16)
2018-07-18
Anne Murray
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
105 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (7;35)
 Autosomal Recessive (4;18)

 Autosomal Semidominant (10;51)
2016-09-16
Katherine Timer
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS neutrophils - decreased
FACS T cells - increased
immune system
MCMV susceptibility
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1b cells - increased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
106 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
 Autosomal Recessive (9;49)

 Autosomal Semidominant (4;23)
2017-08-03
Diantha La Vine
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS IgD MFI - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells in B1 cells - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
107 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 Unknown 2016-05-13
Stephen Lyon
growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
108 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) 2018-05-22
Anne Murray
immune system
lethality-postnatal
skin/coat/nails
109 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
 Autosomal Semidominant (3;16)
2016-12-09
Katherine Timer
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
110 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) 2018-02-02
Anne Murray
behavior/neurological
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
111 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown 2016-05-13
Stephen Lyon
craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
112 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive (1;8) 2016-08-17
Anne Murray
growth/size
skin/coat/nails
113 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 2017-06-01
Emre Turer
behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
114 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
 Autosomal Recessive (3;16)

 Autosomal Semidominant (3;13)
2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
growth/size
immune system
limbs/digits/tail phenotype
115 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (10;66) 2017-06-20
Katherine Timer
FACS B:T cells - increased
FACS B1a cells - decreased
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 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
116 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) 2017-05-25
Katherine Timer
behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
117 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
118 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) 2017-12-19
Anne Murray
liver/biliary system
MTT Value of PECs - decreased
119 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Unknown 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
120 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 2018-02-02
Anne Murray
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 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
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
121 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
behavior/neurological
122 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) 2017-06-14
Katherine Timer
hyposensitivity to TLR CpGODN + IFNg
immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
123 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Unknown 2017-03-31
External Program
FACS B cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - decreased
FACS NK T cells - decreased
124 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) 2016-09-28
Katherine Timer
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ 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
immune system
125 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA Residual (Female) - increased
126 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
pigmentation
skin/coat/nails
127 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) 2018-01-30
Anne Murray
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
128 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (4;32)
 Autosomal Semidominant (4;20)
2017-06-20
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+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
129 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
130 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (7;30) 2018-05-22
Anne Murray
behavior/neurological
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Circadian Power FFT - decreased
Circadian rhythm
Circadian Tau Activity Onset - increased
Circadian Tau DD by eye - increased
innate fear - decreased
limbs/digits/tail phenotype
nervous system
131 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
132 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
 Autosomal Semidominant (1;14)
2018-01-31
Anne Murray
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - increased
Circadian Tau DD by eye - increased
fasting hyperglycemia
133 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) 2018-02-06
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
growth/size
134 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (4;20)
2016-12-16
Anne Murray
FACS B cells - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
immune system
total IgE level - increased
135 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (16;159)

 Autosomal Semidominant (2;11)
2018-04-25
Anne Murray
Bone: Femur BMD (female) - increased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
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 - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
immune system
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - 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
total IgE level - increased
136 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) 2017-03-21
Katherine Timer
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
137 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (7;45)
2016-05-13
Peter Jurek
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
138 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 2016-05-17
Anne Murray
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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
139 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
140 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 2018-04-05
Anne Murray
30 min GTT hyperglycemic
141 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (1;10) 2016-09-16
Katherine Timer
behavior/neurological
hearing/vestibular/ear
142 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) 2017-03-28
Katherine Timer
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
143 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) 2018-03-29
Diantha La Vine
immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
144 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
 Autosomal Recessive (4;20)
2016-12-09
Katherine Timer
FACS B cells - decreased
FACS B220 MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
145 UTSW
has photohas video
Grm1 donald 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
146 UTSW Slc6a3 dopey 13 73536747-73578672 bp (+) 73560959 Autosomal Recessive (14;74)
 Autosomal Semidominant (1;4)
2018-04-10
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Fat Mass (female) - decreased
Bone: Femur BMC - decreased
Bone: Femur BMC (female) - decreased
Bone: Femur BMD - decreased
Bone: Femur BMD (female) - decreased
Bone: Femur BMD (male) - decreased
Bone: Lean Mass - decreased
Bone: Lean Mass (female) - decreased
Bone: Tibia BMC - decreased
Bone: Tibia BMC (male) - decreased
Bone: Tibia Length - decreased
Bone: Tibia Length (male) - decreased
147 UTSW Slc6a3 Dopey2 13 73536747-73578672 bp (+) 73544817 Autosomal Semidominant (1;4) 2018-04-10
Anne Murray
Body Weight - decreased
148 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Unknown 2016-11-01
Katherine Timer
pigmentation
skin/coat/nails
149 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive (1;4) 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
150 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
151 UTSW Slc5a2 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
 Autosomal Semidominant (2;8)
2018-04-11
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
DSS: sensitive day 10
immune system
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
152 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown 2018-05-22
Anne Murray
behavior/neurological
153 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) 2016-05-13
Anne Murray
skin/coat/nails
vision/eye
154 UTSW Socs7 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) 2018-04-11
Anne Murray
Body Weight - decreased
Body Weight (DSS) - decreased
155 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2017-03-31
Anne Murray
eye: chorioretinal lesions
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
vision/eye
156 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (2;13)
 Autosomal Semidominant (1;4)
2017-03-31
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
157 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
 Autosomal Semidominant (1;4)
2018-05-08
Anne Murray
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS IgD MFI - decreased
growth/size
immune system
phagocytosis in PECs - decreased
158 UTSW Ppp3cb Eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (3;32)

 Autosomal Semidominant (4;18)
2017-09-15
Anne Murray
FACS B:T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 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 naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
159 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Unknown 2016-05-13
Stephen Lyon
growth/size
limbs/digits/tail phenotype
skeleton phenotype
160 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown 2017-09-13
Diantha La Vine
immune system
161 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive (2;13)
 Autosomal Semidominant (1;4)
2016-12-07
Anne Murray
DSS: sensitive day 10
FACS T cells - decreased
immune system
skin/coat/nails
162 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Unknown (2;0) 2018-01-05
Eva Marie Y. Moresco
CTL killing - decreased
FACS CD8+ T cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
163 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) 2016-06-03
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
164 UTSW Cd79a elementary 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
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
165 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown 2017-03-21
Katherine Timer
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
166 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) 2016-05-13
Peter Jurek
FACS CD8+ T cells - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
TLR signaling defect: type I IFN production by macrophages
167 UTSW Pparg energy 6 115361221-115490401 bp (+) 115451044 Unknown (4;0) 2018-04-11
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
Circadian Final Body Weight - decreased
Circadian rhythm
growth/size
168 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive (2;19) 2016-11-10
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
169 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Dominant (1;1)
 Autosomal Semidominant (1;4)
2016-11-10
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
170 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive (2;6) 2016-11-10
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
171 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
 Autosomal Semidominant (3;15)
2017-09-06
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
immune system
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
172 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown 2017-02-21
Katherine Timer
immune system
normal phenotype
173 UTSW Ptpn6 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (12;99) 2018-04-06
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
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 in CD3+ 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
immune system
174 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
175 UTSW Trpa1 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
innate fear - decreased
nervous system
176 UTSW Hcfc2 feckless 10 82696160-82742428 bp (+) 82712061 Unknown (2;0) 2018-03-06
Diantha La Vine
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
177 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) 2016-05-13
Anne Murray
response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
178 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;5)
2018-04-25
Anne Murray
dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
179 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
 Autosomal Recessive (1;3)

 Autosomal Semidominant (2;8)
2018-07-20
Diantha La Vine
immune system
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
180 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown 2016-05-13
Stephen Lyon
endocrine/exocrine gland
immune system
skin/coat/nails
181 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) 2017-09-15
Anne Murray
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
182 UTSW
has photo
Lepr fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (35;440) 2018-05-08
Bruce Beutler
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
Blood Pressure: SBP Average - decreased
Blood Pressure: SBP Day 3 - decreased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (HFD
0 weeks) - increased
Body Weight (HFD
2 weeks) - increased
Body Weight (HFD
4 weeks) - increased
Body Weight (Male) - increased
Bone: Fat Mass - increased
Bone: Fat Mass (female) - increased
Bone: Fat Mass (male) - increased
Bone: Lean Fat Ratio - decreased
Bone: Lean Fat Ratio (female) - decreased
Bone: Liver Fat - increased
Bone: Liver Fat (female) - increased
Bone: Liver Fat (normalized) - decreased
Bone: Liver Fat (normalized
female) - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
Bone: Tibia Length (female) - decreased
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
growth/size
immune system
Insulin (HFD
2h refeeding) - increased
Insulin (HFD
fasting) - increased
Liver Triglyceride (HFD) - increased
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
183 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Unknown 2018-04-20
Anne Murray
184 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) 2016-12-02
Katherine Timer
FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
185 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;10)
2018-04-25
Anne Murray
125-03 Response - increased
Body Weight - decreased
endocrine/exocrine gland
growth/size
immune system
186 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) 2017-05-31
Katherine Timer
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
187 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown 2018-05-22
Anne Murray
behavior/neurological
188 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (9;97)
2016-12-08
Katherine Timer
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS 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
189 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-07-10
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
190 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
191 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) 2017-05-31
Katherine Timer
pigmentation
skin/coat/nails
192 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
193 UTSW Tap2 ganymede 17 34203527-34216321 bp (+) Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
CTL killing - decreased
FACS CD8+ T cells - decreased
immune system
NK cell response - decreased
194 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
195 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
196 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive (2;5) 2016-12-07
Anne Murray
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
197 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Unknown 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
198 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;66) 2018-05-22
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
FACS macrophages - increased
growth/size
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: decrease in fasting glucose residual
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
199 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (4;18)
2018-04-25
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
growth/size
immune system
impaired response to dsDNA- type I IFN production by macrophages
Pfizer: decrease in 30 Min glucose residual (female)
200 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Unknown 2017-09-15
Anne Murray
limbs/digits/tail phenotype
reproductive system
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