Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

forkhead box N4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxn4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxn4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Foveal Hypoplasia 1
Hypoplasia of the fovea OMIM:136520
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea OMIM:615312
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Aplasia/Hypoplasia of the macula, Macular dystrophy ORPHA:33445
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation OMIM:619165
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea OMIM:113750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Retinal degeneration, Retinal dysplasia, Microphthalmia, Hypoplasia of the retin... OMIM:253280
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Bardet-Biedl Syndrome 21
Retinal atrophy, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macular lesion, ... OMIM:617406
Ă…land Islands Eye Disease
Hypopigmentation of the fundus, Hypoplasia of the fovea ORPHA:178333
Aland Island Eye Disease
Hypoplasia of the fovea OMIM:300600
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinal Detachment
Retinal detachment OMIM:180050
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Isolated Aniridia
Aniridia, Aplasia/Hypoplasia of the macula ORPHA:250923
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy ORPHA:2185
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Oculoauricular Syndrome
Macular hypoplasia, Rod-cone dystrophy, Microphakia, Microphthalmia OMIM:612109
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Optic nerve misrouting, Ocular albinism, Hypoplasia of the f... ORPHA:79435
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Hypoplasia of the fovea OMIM:203200
Hermansky-Pudlak Syndrome 6
Macular hypoplasia, Ocular albinism, Absent foveal reflex OMIM:614075
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Retinopathy ORPHA:2611
Familial Benign Copper Deficiency
Aplasia/Hypoplasia of the fovea ORPHA:1551
Oculocutaneous Albinism Type 1
Abnormal morphology of the choroidal vasculature, Depigmented fundus, Optic nerve misrouting, Hyp... ORPHA:352731
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Ocular albinism, Hypoplasia of the fovea ORPHA:54
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Optic atrophy OMIM:615219
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea ORPHA:79434
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia OMIM:613792
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Ocular albinism OMIM:614073
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Ocular albinism OMIM:614074
Knobloch Syndrome 1
Macular hypoplasia, Peripapillary atrophy, Vitreoretinopathy, Retinal detachment OMIM:267750
Aniridia 1
Aniridia, Macular agenesis, Chorioretinal hypopigmentation, Hypoplasia of the iris, Optic nerve h... OMIM:106210
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Ocular albinism, Optic disc pallor OMIM:614077
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea OMIM:618744
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Ocular albinism ORPHA:79431
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Ocular albinism OMIM:619172
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic nerve misrouting, Macular hyp... ORPHA:79432
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Yellow/white lesions of the retina, Cherry red spot of the macula, Optic... ORPHA:93400
Incontinentia Pigmenti
Retinal hemorrhage, Microphthalmia, Retinal detachment, Hypoplasia of the fovea, Optic atrophy, R... OMIM:308300
Chediak-Higashi Syndrome
Macular hypoplasia, Ocular albinism, Decreased nerve conduction velocity OMIM:214500
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Ocular albinism OMIM:203100
Jacobsen Syndrome
Macular hypoplasia, Chorioretinal coloboma, Optic atrophy, Microphthalmia OMIM:147791
Oculocutaneous Albinism
Hypopigmentation of the fundus, Hypoplasia of the fovea, Ocular albinism ORPHA:55
Dihydropyrimidine Dehydrogenase Deficiency
Macular hypoplasia ORPHA:1675


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxn4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxn4.

No publications found that use IMPC mice or data for Foxn4.

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MGI Allele Allele Type Produced
Foxn4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Foxn4tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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