Phenotypic Mutations

583 mutations affecting 277 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
2 UTSW
has photo
a killer_whale 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
3 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
4 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown skin/coat/nails
vision/eye
5 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) pigmentation
skin/coat/nails
6 UTSW
has photo
Adamts20 jack_white 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
7 UTSW
has photo
Adamts20 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
Autosomal Semidominant (2;8)
immune system
pigmentation
skin/coat/nails
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
8 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) pigmentation
skin/coat/nails
9 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Unknown pigmentation
skin/coat/nails
10 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
11 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
12 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown pigmentation
skin/coat/nails
13 UTSW
has photo
Adamts20 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
14 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
15 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
16 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) FACS macrophages - decreased
immune system
17 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown FACS macrophages - decreased
18 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) FACS macrophages - decreased
immune system
19 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 30 min GTT hyperglycemic
20 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
21 UTSW
has video
Agtpbp1 gru 13 59449537-59585227 bp (-) 59473746 Autosomal Recessive (19;136)
Autosomal Semidominant (1;5)
behavior/neurological
Blood Pressure: HR Day 3 - decreased
Body Weight - decreased
Body Weight (BP Female) - decreased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Femur BMD - decreased
Bone: Fore Hip Distance - decreased
Bone: Lean Mass - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
growth/size
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
22 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown behavior/neurological
growth/size
23 UTSW Agtpbp1 wobble 13 59449537-59585227 bp (-) 59474550 Autosomal Recessive (9;27) 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
24 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
Body Weight - increased
Body Weight (Male) - increased
growth/size
25 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
30 Min. Insulin - increased
30 Min. Insulin (Male) - increased
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
26 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (16;118)

Autosomal Semidominant (3;10)
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
27 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
28 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown anemia
29 UTSW
has photo
Ap3b1 bella 13 94358960-94566316 bp (+) 94528257 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
30 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
31 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) pigmentation
skin/coat/nails
32 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 30 min GTT hyperglycemic
33 UTSW Apbb2 Dionysis 5 66298861-66618828 bp (-) 66452250 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
34 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1;0) immune system
35 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
36 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
37 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
38 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
39 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
40 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive (4;14) behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
hearing/vestibular/ear
immune system
41 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown hematopoietic system
42 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
43 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
44 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown lethality-embryonic/perinatal
pigmentation
skin/coat/nails
45 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
46 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
Autosomal Recessive (15;155)

Autosomal Semidominant (2;11)
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
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
47 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (9;55)

Autosomal Semidominant (4;19)
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 CD44+ T MFI - 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
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
48 UTSW Bcl3 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 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
49 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
50 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4;20) IgE response to a Cysteine Protease (Papain) - increased
immune system
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
total IgE level - increased
51 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) FACS B cells - 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
52 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Unknown hearing/vestibular/ear
pigmentation
skin/coat/nails
53 UTSW Cacna2d2 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
54 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive (1;9) Novelty: Total Activity - increased
55 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) 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
56 UTSW Card11 hubei 5 140872999-141000596 bp (-) 140906767 Autosomal Recessive (1;7) FACS B1a cells - increased
immune system
57 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Unknown (1;0) CTL killing - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
58 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
59 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (3;16) 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
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
60 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Unknown CD8 response - decreased
FACS NK cells - decreased
FACS NK T cells - decreased
hematopoietic system
immune system
NK cell response - decreased
skin/coat/nails
61 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
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
62 UTSW
has video
Cars2 madcow 8 11514021-11550771 bp (-) 11526034 Unknown behavior/neurological
63 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (8;55) FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ 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 T cells - decreased
immune system
64 UTSW Ccr7 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (2;11)
Autosomal Semidominant (1;5)
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS macrophages - decreased
immune system
65 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
66 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (4;23)
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 - increased
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
67 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) 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
68 UTSW Cd22 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9;92) 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 MFI - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
69 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
70 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
Autosomal Dominant (5;11)

Autosomal Recessive (4;14)


Autosomal Semidominant (6;17)
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
71 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
72 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
73 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
vision/eye
74 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) hematopoietic system
immune system
75 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) 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
76 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown FACS CD4+ T cells - decreased
immune system
77 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Unknown FACS CD4+ T cells - decreased
immune system
78 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown FACS CD4+ T cells - decreased
immune system
79 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
immune system
OVA-specific IgE - increased
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
80 UTSW Cd40 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
Autosomal Recessive (3;35)

Autosomal Semidominant (1;4)
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory 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
total IgE level - decreased
81 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0)
82 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) FACS B cells - decreased
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
83 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
Autosomal Semidominant (1;5)
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
84 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
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 CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
85 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5;44) 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
86 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
T-dependent humoral response defect- increased antibody response to rSFV
87 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
88 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (10;76) Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS neutrophils - increased
growth/size
immune system
impaired response to dsDNA- type I IFN production by macrophages
MTT Value of PECs - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
total IgE level - increased
89 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
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
immune system
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
90 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
91 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (3;24) eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
92 UTSW Cntnap1 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (3;13) Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
93 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Unknown behavior/neurological
skeleton phenotype
94 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
95 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
96 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Unknown iron deficiency
97 UTSW Cryaa L1n 17 31677933-31681722 bp (+) 31681025 Unknown vision/eye
98 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Unknown vision/eye
99 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Unknown vision/eye
100 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) FACS B cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
OVA-specific IgE - increased
Pfizer: increase in 30 Min Glucose Residual
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
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