IMPC Gene variants with abnormal eyelid morphology
Total number of significant genotype-phenotype associations: 74
Gene / Allele | Zygosity | Sex | Life Stage | Phenotype | Parameter | Phenotyping Center |
P Value |
---|---|---|---|---|---|---|---|
Axin2 Axin2tm1b(KOMP)Wtsi |
HOM | E18.5 | abnormal eyelid fusion | Failure of Eyelid Fusion Gross Morphology Embryo E18.5 |
BCM IMPC |
0.00 | |
Bcl11b Bcl11btm1.1(KOMP)Vlcg |
HOM | E18.5 | abnormal eyelid fusion | Failure of Eyelid Fusion Gross Morphology Embryo E18.5 |
JAX IMPC |
0.00 | |
Tmem209 Tmem209em1(IMPC)Tcp |
HOM | E18.5 | abnormal eyelid fusion | Failure of Eyelid Fusion Gross Morphology Embryo E18.5 |
TCP IMPC |
0.00 | |
Ubn2 Ubn2em1(IMPC)Tcp |
HOM | E18.5 | abnormal eyelid fusion | Failure of Eyelid Fusion Gross Morphology Embryo E18.5 |
TCP IMPC |
0.00 | |
Lrrk1 Lrrk1tm1b(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
MRC Harwell IMPC |
9.16×10-31 | |
Fgf10 Fgf10tm1b(EUCOMM)Wtsi |
HET | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
1.69×10-23 | |
Barx2 Barx2tm1b(EUCOMM)Hmgu |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
4.76×10-21 | |
Barx2 Barx2tm1b(EUCOMM)Hmgu |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
MRC Harwell IMPC |
4.77×10-21 | |
Awat2 Awat2em1(IMPC)Mbp |
HEM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
UC Davis IMPC |
5.72×10-21 | |
Awat2 Awat2em1(IMPC)Mbp |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
UC Davis IMPC |
6.53×10-21 | |
Cyb561 Cyb561tm1b(EUCOMM)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
6.49×10-14 | |
Dsg1b Dsg1btm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
WTSI IMPC |
2.97×10-13 | |
Sox21 Sox21em1(IMPC)Mbp |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
UC Davis IMPC |
7.42×10-13 | |
Rnf168 Rnf168em1(IMPC)H |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
2.57×10-12 | |
Kat14 Kat14tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid aperture | Eyelid closure Slit Lamp |
WTSI EuroPhenome |
2.58×10-11 | |
Kat14 Kat14tm1a(KOMP)Wtsi |
HOM | Early adult | eyelids fail to open | Palpebral Closure Modified SHIRPA |
WTSI EuroPhenome |
5.09×10-11 | |
Ctsa Ctsatm2b(EUCOMM)Hmgu |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
8.09×10-11 | |
Smoc1 Smoc1tm1b(EUCOMM)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
1.10×10-10 | |
Ubac1 Ubac1em1(IMPC)J |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
1.85×10-09 | |
Spns2 Spns2tm1b(KOMP)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
WTSI IMPC |
8.60×10-09 | |
Barx2 Barx2tm1b(EUCOMM)Hmgu |
HOM | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
MRC Harwell IMPC |
5.45×10-08 | |
Duoxa2 Duoxa2tm1b(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
WTSI IMPC |
1.16×10-07 | |
Diaph3 Diaph3tm1b(KOMP)Mbp |
HET | Late adult | eyelids fail to open | Eyelid closure Eye Morphology |
JAX IMPC |
1.81×10-07 | |
Diaph3 Diaph3tm1b(KOMP)Mbp |
HET | Late adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
JAX IMPC |
1.81×10-07 | |
Diaph3 Diaph3tm1b(KOMP)Mbp |
HET | Late adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
1.81×10-07 | |
Sirt1 Sirt1tm1b(EUCOMM)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
5.73×10-07 | |
Plekha5 Plekha5em1(IMPC)Tcp |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
TCP IMPC |
7.07×10-07 | |
Txnl1 Txnl1em1(IMPC)Tcp |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
TCP IMPC |
1.60×10-06 | |
Kntc1 Kntc1tm1b(EUCOMM)Hmgu |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
1.66×10-06 | |
Bmp4 Bmp4tm1b(EUCOMM)Hmgu |
HET | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
BCM IMPC |
1.82×10-06 | |
Usp1 Usp1tm1b(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid aperture | Eyelid Opening Combined SHIRPA and Dysmorphology |
WTSI IMPC |
3.96×10-06 | |
Ehd1 Ehd1tm1a(EUCOMM)Wtsi |
HOM | Early adult | abnormal eyelid aperture | Eyelid closure Slit Lamp |
WTSI MGP |
4.83×10-06 | |
Rab3gap2 Rab3gap2tm1b(KOMP)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
6.57×10-06 | |
Spns2 Spns2tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid aperture | Eyelid closure Slit Lamp |
WTSI EuroPhenome |
7.24×10-06 | |
Prepl Preplem1(IMPC)H |
HOM | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
MRC Harwell IMPC |
8.84×10-06 | |
Slc20a2 Slc20a2tm1a(EUCOMM)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
WTSI IMPC |
1.12×10-05 | |
Prepl Preplem1(IMPC)H |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
1.17×10-05 | |
Spp1 Spp1tm1.1(KOMP)Vlcg |
HOM | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
JAX IMPC |
1.28×10-05 | |
Spp1 Spp1tm1.1(KOMP)Vlcg |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
JAX IMPC |
1.28×10-05 | |
Epb41l1 Epb41l1tm1b(EUCOMM)Wtsi |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
JAX IMPC |
1.55×10-05 | |
Nxn Nxntm1b(EUCOMM)Wtsi |
HET | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
WTSI IMPC |
1.78×10-05 | |
Pus1 Pus1em1(IMPC)J |
HOM | Late adult | eyelids fail to open | Eyelid closure Eye Morphology |
JAX IMPC |
2.42×10-05 | |
Pus1 Pus1em1(IMPC)J |
HOM | Late adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
JAX IMPC |
2.42×10-05 | |
Pus1 Pus1em1(IMPC)J |
HOM | Late adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
2.42×10-05 | |
Rnf168 Rnf168em1(IMPC)H |
HOM | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
MRC Harwell IMPC |
2.57×10-05 | |
Dmac2l Dmac2ltm1b(EUCOMM)Hmgu |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
2.67×10-05 | |
Cxcr4 Cxcr4em1(IMPC)Mbp |
HET | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
UC Davis IMPC |
3.54×10-05 | |
Spry4 Spry4tm1b(KOMP)Mbp |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
KMPC IMPC |
3.54×10-05 | |
Pdcd2 Pdcd2tm1b(EUCOMM)Wtsi |
HET | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
WTSI IMPC |
3.60×10-05 | |
Tuft1 Tuft1tm1a(KOMP)Wtsi |
HOM | Early adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
WTSI IMPC |
3.60×10-05 | |
Svep1 Svep1tm1b(EUCOMM)Hmgu |
HET | Late adult | eyelids fail to open | Eyelid closure Eye Morphology |
JAX IMPC |
4.20×10-05 | |
Svep1 Svep1tm1b(EUCOMM)Hmgu |
HET | Late adult | abnormal eyelid morphology | Eyelid morphology Eye Morphology |
JAX IMPC |
4.20×10-05 | |
Mysm1 Mysm1tm1a(KOMP)Wtsi |
HOM | Early adult | narrow eye opening | Eyelid closure Slit Lamp |
WTSI EuroPhenome |
4.20×10-05 | |
Txnl1 Txnl1em1(IMPC)Tcp |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
TCP IMPC |
4.67×10-05 | |
Frmd6 Frmd6em1(IMPC)H |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
MRC Harwell IMPC |
4.89×10-05 | |
Slc20a2 Slc20a2tm1a(EUCOMM)Wtsi |
HOM | Early adult | eyelids fail to open | Eyelid closure Eye Morphology |
WTSI IMPC |
5.40×10-05 | |
Ubl7 Ubl7em1(IMPC)Tcp |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
TCP IMPC |
5.88×10-05 | |
Cdc45 Cdc45em1(IMPC)Bay |
HET | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
BCM IMPC |
6.23×10-05 | |
Svep1 Svep1tm1b(EUCOMM)Hmgu |
HET | Late adult | narrow eye opening | Narrow eye opening Eye Morphology |
JAX IMPC |
6.52×10-05 | |
Zbtb5 Zbtb5tm2b(EUCOMM)Hmgu |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
BCM IMPC |
6.88×10-05 | |
Dsc2 Dsc2tm1e(KOMP)Wtsi |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
WTSI IMPC |
7.71×10-05 | |
Thpo Thpotm1.1(KOMP)Vlcg |
HOM | Early adult | narrow eye opening | Narrow eye opening Eye Morphology |
UC Davis IMPC |
8.96×10-05 |