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Gene: Farp1 MGI:2446173

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Gene Summary

Name:
FERM, ARH/RhoGEF and pleckstrin domain protein 1
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 fasting circulating glucose level Farp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.81×10-05
increased startle reflex Farp1tm1b(EUCOMM)Hmgu HOM Early adult 7.68×10-08
abnormal vitreous body morphology Farp1tm1b(EUCOMM)Hmgu HOM Early adult 1.34×10-05
abnormal retina morphology Farp1tm1b(EUCOMM)Hmgu HOM Early adult 5.86×10-07

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa OMIM:248200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma ORPHA:231736
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal detachment, Retinal dots, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Bardet-Biedl Syndrome 9
Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentat... OMIM:615986
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Retinopathy,... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response OMIM:616881
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Stiff-Person Syndrome
Opisthotonus, Diabetes mellitus, Exaggerated startle response OMIM:184850
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hypoglycemia, Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Tay-Sachs Disease
Optic atrophy, Laryngeal dystonia, Cherry red spot of the macula, Tremor, Exaggerated startle res... ORPHA:845
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Dystonia, Hypoglycemia, Exaggerated startle response OMIM:620423
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Hyperinsulinemia OMIM:620185
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response ORPHA:79255
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... ORPHA:637
Norrie Disease
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... ORPHA:649
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213
Neuroocular Syndrome 1
Hypoplasia of the fovea, Remnants of the hyaloid vascular system OMIM:619539
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170
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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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