Phenotype: abnormal optic nerve morphology

Definition
any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposite side and pass to the geniculate bodies
Synonyms
optic nerve dysplasia,  abnormal optic II nerve morphology,  abnormal CN-II morphology
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal optic nerve morphology

Total number of significant genotype-phenotype associations: 117

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center
P Value
Angptl4
Angptl4tm1b(EUCOMM)Hmgu
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
MRC Harwell
IMPC
0.00
Atg9b
Atg9btm1b(KOMP)Mbp
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Bnip3
Bnip3em1(IMPC)Mbp
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Cacna1f
Cacna1ftm1.1(KOMP)Vlcg
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Ccdc25
Ccdc25em1(IMPC)Mbp
HET Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Crbn
Crbntm1b(KOMP)Wtsi
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Dsc3
Dsc3tm1b(EUCOMM)Wtsi
HET Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
MRC Harwell
IMPC
0.00
Gpx7
Gpx7tm1.1(KOMP)Vlcg
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Hcls1
Hcls1em1(IMPC)Ccpcz
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
CCP-IMG
IMPC
0.00
Krit1
Krit1tm1.1(KOMP)Vlcg
HET Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Npas2
Npas2em1(IMPC)Mbp
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Phldb2
Phldb2em1(IMPC)H
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
MRC Harwell
IMPC
0.00
Prepl
Preplem1(IMPC)H
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
MRC Harwell
IMPC
0.00
Rbm20
Rbm20em1(IMPC)Mbp
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Timp4
Timp4em1(IMPC)Mbp
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Tkfc
Tkfcem1(IMPC)Ccpcz
HOM Early adult absent optic nerve Eye with optic nerve
Gross Pathology and Tissue Collection
CCP-IMG
IMPC
0.00
Tkfc
Tkfcem1(IMPC)Ccpcz
HOM Early adult abnormal optic nerve morphology Eye with optic nerve
Gross Pathology and Tissue Collection
CCP-IMG
IMPC
0.00
Mettl23
Mettl23em1(IMPC)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
1.90×10-22
Pitx2
Pitx2tm1b(EUCOMM)Wtsi
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
6.14×10-17
Bmpr1b
Bmpr1bem1(IMPC)Mbp
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
6.86×10-17
Pepd
Pepdtm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
3.00×10-16
Nbas
Nbastm1b(EUCOMM)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
7.69×10-16
Ppfibp2
Ppfibp2em1(IMPC)Tcp
HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
2.13×10-15
Sh3rf1
Sh3rf1em1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
1.98×10-14
Dnmbp
Dnmbpem1(IMPC)Mbp
HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
3.07×10-14
Bmp4
Bmp4tm1b(EUCOMM)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
8.54×10-14
Zfp503
Zfp503em1(IMPC)Mbp
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
2.40×10-13
Gdf6
Gdf6em1(IMPC)Ccpcz
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
CCP-IMG
IMPC
1.02×10-12
Col18a1
Col18a1tm1.1(KOMP)Vlcg
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
2.20×10-12
Foxd2
Foxd2em1(IMPC)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
9.47×10-11
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
3.28×10-10
Zbtb16
Zbtb16em1(IMPC)Mbp
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
2.60×10-09
Bach2
Bach2tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
4.25×10-09
Sox2
Sox2em1(IMPC)Mbp
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
7.56×10-09
Tfap2b
Tfap2btm1b(EUCOMM)Wtsi
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
8.46×10-09
Mettl5
Mettl5em1(IMPC)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
1.27×10-08
Stx5a
Stx5atm1b(EUCOMM)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
2.06×10-08
Ipo8
Ipo8tm1.1(KOMP)Vlcg
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
7.89×10-08
Lpp
Lpptm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
1.20×10-07
Ptp4a1
Ptp4a1em2(IMPC)Tcp
HOM Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
1.23×10-07
Hmcn1
Hmcn1em1(IMPC)J
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
1.40×10-07
Fhip2a
Fhip2aem1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
1.49×10-07
Dpp3
Dpp3tm1b(EUCOMM)Hmgu
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
2.94×10-07
Spin1
Spin1tm1.1(KOMP)Vlcg
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
4.20×10-07
Sesn1
Sesn1tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
5.29×10-07
Fam161a
Fam161atm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
5.37×10-07
Rabgap1
Rabgap1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
6.41×10-07
Vps13b
Vps13bem1(IMPC)Tcp
HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
1.98×10-06
Dbnl
Dbnltm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
ICS
IMPC
2.08×10-06
Plekhm1
Plekhm1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
2.88×10-06
Stoml1
Stoml1em1(IMPC)Tcp
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
2.88×10-06
Ccdc34
Ccdc34em1(IMPC)J
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
3.70×10-06
Nub1
Nub1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
CCP-IMG
IMPC
3.95×10-06
Rxfp2
Rxfp2tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
4.17×10-06
Ahsa1
Ahsa1em1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
4.83×10-06
Nos1ap
Nos1aptm1b(KOMP)Wtsi
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
6.17×10-06
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
6.64×10-06
Foxd2
Foxd2em1(IMPC)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
7.33×10-06
Arl2bp
Arl2bpem1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
7.70×10-06
Cdkn1b
Cdkn1bem2(IMPC)H
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
8.03×10-06
Mapkapk2
Mapkapk2tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
8.03×10-06
Pard3
Pard3tm1b(KOMP)Wtsi
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
8.03×10-06
Ppfia2
Ppfia2tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
8.16×10-06
Cant1
Cant1tm1b(EUCOMM)Hmgu
HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
9.90×10-06
Aif1
Aif1tm1.1(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
9.91×10-06
Dnm1l
Dnm1ltm1b(KOMP)Wtsi
HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
ICS
IMPC
1.34×10-05
Nxn
Nxntm1b(EUCOMM)Wtsi
HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MARC
IMPC
1.36×10-05
Cidec
Cidectm1b(EUCOMM)Wtsi
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
1.40×10-05
Prdm5
Prdm5em1(IMPC)Tcp
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
1.71×10-05
Sra1
Sra1tm1b(EUCOMM)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
1.71×10-05
Sptlc3
Sptlc3em1(IMPC)Hmgu
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
1.93×10-05
Atp8b1
Atp8b1em1(IMPC)Tcp
HOM   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
2.07×10-05
Rcc2
Rcc2tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
2.40×10-05
Egr1
Egr1tm1b(NCOM)Mfgc
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
TCP
IMPC
2.55×10-05
Ap1g1
Ap1g1tm1b(EUCOMM)Hmgu
HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
2.84×10-05
Col1a2
Col1a2tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
MRC Harwell
IMPC
3.09×10-05
Cluh
Cluhem1(IMPC)Ccpcz
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
CCP-IMG
IMPC
3.43×10-05
Ginm1
Ginm1tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
3.52×10-05
Slc7a11
Slc7a11tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
ICS
IMPC
3.71×10-05
Rab3gap2
Rab3gap2tm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
3.87×10-05
Syt8
Syt8em1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
3.87×10-05
Pcif1
Pcif1em1(IMPC)Bay
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
4.20×10-05
Zfp329
Zfp329em1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
4.24×10-05
Ik
Ikem2(IMPC)Kmpc
HET   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
KMPC
IMPC
4.25×10-05
Gulo
Guloem1(IMPC)Ccpcz
HOM   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
CCP-IMG
IMPC
4.31×10-05
Fbn2
Fbn2em1(IMPC)Rbrc
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
RBRC
IMPC
5.15×10-05
E2f3
E2f3tm1b(KOMP)Wtsi
HET   Late adult abnormal optic disk morphology Optic Disc
Eye Morphology
KMPC
IMPC
5.43×10-05
Egln3
Egln3tm1b(EUCOMM)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
5.59×10-05
Zfp930
Zfp930tm1b(KOMP)Wtsi
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
BCM
IMPC
5.59×10-05
Lmna
Lmnatm1b(EUCOMM)Wtsi
HET   Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
ICS
IMPC
6.38×10-05
Tbcel
Tbcelem1(IMPC)J
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
JAX
IMPC
7.47×10-05
Tmeff2
Tmeff2em1(IMPC)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
8.77×10-05
Etfb
Etfbem1(IMPC)Hmgu
HET Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
HMGU
IMPC
9.70×10-05
Plxna4
Plxna4em1(IMPC)Mbp
HOM Early adult abnormal optic disk morphology Optic Disc
Eye Morphology
UC Davis
IMPC
9.82×10-05

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 The way we measure

 Phenotype associations stats

1.32% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal optic nerve morphology (92/6948)

0.77% females (53/6869) 0.66% males (46/6932)

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