Gene Summary

Name:
family with sequence similarity 168, member A
Synonyms:
B930006L02Rik,  2610030B18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal retina morphology Fam168aem1(IMPC)J HOM Early adult 4.19×10-07
increased circulating phosphate level Fam168aem1(IMPC)J HOM Early adult 1.13×10-05
abnormal behavior Fam168aem1(IMPC)J HOM Early adult 2.57×10-05
decreased thigmotaxis Fam168aem1(IMPC)J HOM Early adult 2.57×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Forepaw

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Fam168a 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 Fam168a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio... OMIM:239000
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Hypocalcemia, Emotional lability, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis, Hypercalcemia, Angioid streaks of the fundus OMIM:211900
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79444
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Linear Verrucous Nevus Syndrome
Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia ORPHA:2611
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphosphatemia ORPHA:93325
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79443
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Cystinosis
Polydipsia, Hypokalemia, Retinopathy, Hypophosphatemia, Motor stereotypy ORPHA:213
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia OMIM:101800
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Agitation, Hyperphosphatemia ORPHA:340
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Infantile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Pigmentary retinopathy ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Cystinosis, Nephropathic
Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circula... OMIM:219800
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Dent Disease 1
Hypophosphatemia OMIM:300009
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Depression, Compulsive behaviors, Hyponatremia, Hypophosphatemia, Motor stereotypy, ... ORPHA:534
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Dysphagia, Pigmenta... ORPHA:699
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Opsismodysplasia
Hypophosphatemia OMIM:258480
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:99880
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:143
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression ORPHA:667
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936

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 Fam168a

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 Fam168a.

No publications found that use IMPC mice or data for Fam168a.

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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
Fam168aem1(IMPC)J Exon Deletion Mice
Fam168atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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