| 1 |
 |
|
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 |
|
|
Scn8a
|
Tremord
|
15 |
100870683-101045929 bp (+)
|
101013504 |
Unknown
|
2018-05-22
Anne Murray
|
behavior/neurological |
| 3 |
|
|
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 |
|
|
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 |
|
|
Cdh23
|
dee_dee
|
10 |
60302748-60696490 bp (-)
|
60308056 |
Autosomal Recessive (1;4)
|
2018-04-25
Anne Murray
|
behavior/neurological
hearing/vestibular/ear |
| 6 |
|
|
Edar
|
achtung2
|
10 |
58600789-58675654 bp (-)
|
58603163 |
Unknown
|
2018-04-24
Diantha La Vine
|
craniofacial
limbs/digits/tail phenotype
skin/coat/nails |
| 7 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
Prkdc
|
screamer
|
16 |
15637866-15842235 bp (+)
|
15831282 |
Autosomal Recessive (22;267)
|
2018-03-28
Diantha La Vine
|
Body Weight - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS 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 |
|
|
Adamts20
|
panda
|
15 |
94270163-94465418 bp (-)
|
94326699 |
Unknown
|
2018-03-12
Diantha La Vine
|
pigmentation
skin/coat/nails |
| 12 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
Fgf5
|
porcupine
|
5 |
98254184-98277030 bp (+)
|
98254746 |
Unknown
|
2017-10-13
Anne Murray
|
skin/coat/nails |
| 16 |
|
|
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 |
|
|
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 |
|
|
Muc2
|
Schlendrian
|
7 |
141690340-141754693 bp (+)
|
141695682 |
Unknown (1;0)
|
2017-09-13
Diantha La Vine
|
immune system |
| 19 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
Cd3e
|
tumormouse
|
9 |
44998743-45009590 bp (-)
|
45006150 |
Unknown (1;0)
|
2016-12-30
Katherine Timer
|
hematopoietic system
immune system |
| 24 |
|
|
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 |
|
|
Smtn
|
runtish
|
11 |
3517523-3540612 bp (-)
|
3531326 |
Autosomal Recessive (1;6)
|
2016-11-08
Anne Murray
|
Body Weight - decreased
growth/size |
| 26 |
|
|
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 |
|
|
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 |
|
|
Slc45a2
|
zuckerkuss
|
15 |
11000721-11029233 bp (+)
|
11025935 |
Unknown
|
2016-05-13
Stephen Lyon
|
pigmentation
skin/coat/nails |
| 29 |
|
|
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 |
 |
|
Cd4
|
thoth
|
6 |
124864692-124888221 bp (-)
|
124873140 |
Unknown
|
2016-05-13
Peter Jurek
|
FACS CD4+ T cells - decreased
immune system |
| 31 |
|
|
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 |
|
|
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 |
|
|
Naip5
|
inwood2
|
13 |
100211739-100246323 bp (-)
|
100223014 |
Autosomal Recessive (1;6)
|
2016-05-13
Anne Murray
|
immune system
Nlrc4 inflammasome: low response |
| 34 |
|
|
Scd1
|
flake
|
19 |
44394451-44407709 bp (-)
|
44400330 |
Unknown
|
2016-05-13
Stephen Lyon
|
endocrine/exocrine gland
immune system
skin/coat/nails |
| 35 |
|
|
Ap3d1
|
christian
|
10 |
80706978-80742211 bp (-)
|
80730042 |
Autosomal Semidominant (1;0)
|
2016-05-13
Anne Murray
|
pigmentation
skin/coat/nails |
