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Gene: Fam117b MGI:1920000

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Gene Summary

Name:
family with sequence similarity 117, member B
Synonyms:
Als2cr13,  2810425F24Rik,  6330416D14Rik

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IMPC Data Collections

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

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
decreased circulating triglyceride level Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.12×10-06
decreased blood urea nitrogen level Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.38×10-05
decreased circulating HDL cholesterol level Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.86×10-07
abnormal bone mineralization Fam117btm1a(EUCOMM)Wtsi HOM Early adult 1.61×10-06
abnormal retina morphology Fam117btm1a(EUCOMM)Wtsi HOM Early adult 2.36×10-12
increased lean body mass Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.34×10-07

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Fam117b 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 Fam117b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporo... OMIM:266510
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Squalene Synthase Deficiency
Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio... OMIM:618156
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retinopathy ORPHA:71
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Rickets OMIM:219900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R... OMIM:268315
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Failure to thrive, Osteoporosis, Rickets OMIM:560000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... ORPHA:93160
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Rickets OMIM:211600
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:264700
Cystinosis
Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive, Retinopathy ORPHA:213
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Rickets OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... ORPHA:79303
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... OMIM:307800
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive ORPHA:2088
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Fibrous Dysplasia Of Bone
Thin bony cortex, Hypercalcemia, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysi... ORPHA:249
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Failure... ORPHA:14
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Failure to thrive, Flexion contracture, Hypoalbuminemia, Steatorrhea, Rod-cone dystro... OMIM:212065
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Rickets, Osteoporosis, Weight loss, Steatorrhea ORPHA:309031
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ... OMIM:227810
Mccune-Albright Syndrome
Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia of the bones, ... ORPHA:562
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive OMIM:212750
Alg12-Cdg
Hyponatremia, Retinal detachment, Abnormal bone ossification, Hypoalbuminemia, Camptodactyly, Fai... ORPHA:79324
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... ORPHA:411629
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... ORPHA:89936
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Failure to thrive, Hypocholesterolemia OMIM:244450
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... ORPHA:3337
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... ORPHA:18
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Retinal pigment epithelial mottling, Rickets, Reduced... OMIM:219800
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa... OMIM:613658
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Osteomalacia, Recurrent fractures, Joint st... ORPHA:534
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dubowitz Syndrome
Rod-cone dystrophy, Hypocholesterolemia OMIM:223370
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... ORPHA:198
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy, Abnormal retinal artery... ORPHA:51608
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... OMIM:619381

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 Fam117b

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 Fam117b.

No publications found that use IMPC mice or data for Fam117b.

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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
Fam117btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fam117btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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