Phenotypic Mutations

35 mutations affecting 35 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 35 of 35] per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Fnip1 hamel2 11 54438199-54518235 bp (+) 54502271 Autosomal Dominant (2;8)
 Autosomal Recessive (7;116)
2018-06-15
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS T cells - increased
immune system
2 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown 2018-05-22
Anne Murray
behavior/neurological
3 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) 2018-05-15
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
4 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
5 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
6 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
7 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
8 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown 2018-04-06
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
9 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
10 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (23;272) 2018-03-28
Diantha La Vine
Body Weight - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
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
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
11 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Unknown 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
12 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
13 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) 2018-01-15
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
14 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
15 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown 2017-10-13
Anne Murray
skin/coat/nails
16 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
17 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
18 UTSW Muc2 Schlendrian 7 141690340-141754693 bp (+) 141695682 Unknown (1;0) 2017-09-13
Diantha La Vine
immune system
19 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
20 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62) 2017-09-04
Diantha La Vine
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Rac2 potter 15 78559169-78572783 bp (-) 78570743 Autosomal Recessive (4;22)
 Autosomal Semidominant (2;11)
2017-08-09
Diantha La Vine
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
22 UTSW Tnf Panr1 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) 2017-04-18
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
23 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) 2016-12-30
Katherine Timer
hematopoietic system
immune system
24 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) 2016-11-10
Anne Murray
immune system
TLR signaling defect: TNF production by macrophages
25 UTSW Smtn runtish 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6) 2016-11-08
Anne Murray
Body Weight - decreased
growth/size
26 UTSW Unc13d jinx 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) 2016-10-11
Bruce Beutler
DSS: sensitive day 7
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
27 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (5;26)
2016-09-19
Anne Murray
FACS B1 cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS macrophages - increased
FACS NK cells - decreased
FACS T cells - decreased
immune system
28 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
29 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
30 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
31 UTSW Myo5a 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
32 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) 2016-05-13
Stephen Lyon
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
RVFV susceptibility
33 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) 2016-05-13
Anne Murray
immune system
Nlrc4 inflammasome: low response
34 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown 2016-05-13
Stephen Lyon
endocrine/exocrine gland
immune system
skin/coat/nails
35 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
[records 1 to 35 of 35]