Definition
any structural anomaly of the skin folds covering the front of the eyeball
Synonyms
abnormal palpebrae morphology,
abnormal eye lid morphology,
abnormal blepharon morphology,
abnormal palpebra morphology,
abnormal blephara morphology,
eyelid dysplasia,
abnormal eyelids morphology
0%
of tested genes
0
significant genes
0
tested genes
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 |