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Gene: Farp1 MGI:2446173

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Gene Summary

Name:
FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived)
Synonyms:
Cdep

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Farp1tm1b(EUCOMM)Hmgu HOM Early adult 7.68×10-08
abnormal vitreous body morphology Farp1tm1b(EUCOMM)Hmgu HOM Early adult 3.40×10-05
abnormal retina morphology Farp1tm1b(EUCOMM)Hmgu HOM Early adult 5.91×10-07
increased fasting circulating glucose level Farp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.81×10-05

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Farp1 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 Farp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Hyperglycemia OMIM:618970
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia OMIM:520000
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigm... OMIM:615986
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis OMIM:618857
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... OMIM:120200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Retinopathy, Glycosuria, Neo... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia OMIM:253800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage, Retinal vascular... OMIM:609049
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Optic atrophy, T... ORPHA:845
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Abnormality of the optic nerve, Epiretinal membrane, Ret... ORPHA:637
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Norrie Disease
Remnants of the hyaloid vascular system, Abnormal retinal vascular morphology, Retinal detachment... ORPHA:649
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Hypoplasia of the fovea OMIM:619539
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

Histopathology

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 Farp1

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 Farp1.

No publications found that use IMPC mice or data for Farp1.

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MGI Allele Allele Type Produced
Farp1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Farp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Farp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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