Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
decreased circulating triglyceride level Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.12×10-06
increased lean body mass Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.34×10-07
decreased blood urea nitrogen level Fam117btm1a(EUCOMM)Wtsi HOM Early adult 8.38×10-05
abnormal retina morphology Fam117btm1a(EUCOMM)Wtsi HOM Early adult 2.36×10-12

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
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Steatorrhea, D... OMIM:615558
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... OMIM:246700
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Steatorr... OMIM:266510
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Hypophosphatemic Bone Disease
Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... OMIM:616834
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... OMIM:133780
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Rickets, Failure to thrive, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... OMIM:146300
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... OMIM:618156
Chylomicron Retention Disease
Retinopathy, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia ORPHA:71
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Renal Tubular Acidosis Iii
Rickets, Hypokalemia, Osteomalacia OMIM:267200
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Recurrent fractures, Optic atrophy, Bone spicule pigmentation of the retina, ... OMIM:268315
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive, Hypokalemia OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:600081
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... OMIM:179800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Failure to thrive, Pigmentary retinopathy, Osteoporosis OMIM:560000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... OMIM:241530
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... ORPHA:157215
Fanconi Renotubular Syndrome 2
Recurrent fractures, Osteomalacia, Hypophosphatemia, Rickets, Osteopenia OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia OMIM:211600
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Rod-cone dystrophy, Optic atrophy... ORPHA:96180
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:264700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hypokalemia OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Sparse b... ORPHA:289157
Retinopathy, Hypophosphatemia, Hypokalemia, Rickets, Failure to thrive ORPHA:213
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... OMIM:277440
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Rickets, Failure to thri... ORPHA:79303
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphat... OMIM:307800
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration OMIM:615605
Fanconi-Bickel Syndrome
Hypophosphatemia, Rickets, Failure to thrive, Osteopenia, Hypertriglyceridemia ORPHA:2088
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Hypophosphatemia, Osteomalacia OMIM:134600
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... OMIM:300009
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Hyperbilirubinemia, Steatorrhea, Abn... ORPHA:14
Fibrous Dysplasia Of Bone
Thin bony cortex, Increased circulating cortisol level, Osteomalacia, Hypophosphatemia, Rickets, ... ORPHA:249
Fanconi-Bickel Syndrome
Osteomalacia, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia OMIM:227810
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Rod-cone dystrophy, Steatorrhea, Failure to thrive, Osteopenia, Hypocholeste... OMIM:212065
Dermatosparaxis Ehlers-Danlos Syndrome
Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Joint stiffness, Osteoporosis ORPHA:1901
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypophosphatemia, Large for gestational age, Hypouricemia OMIM:616026
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteomalacia, Steatorrhea, Rickets, Osteoporosis ORPHA:309031
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Recurrent fractures, Increased circulating cortisol level, Osteomal... ORPHA:562
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Osteomalacia, Abnormal trabecular bone morphology, I... ORPHA:289176
Abnormal bone ossification, Camptodactyly, Retinal detachment, Failure to thrive, Hyponatremia, H... ORPHA:79324
Celiac Disease, Susceptibility To, 1
Weight loss, Steatorrhea, Rickets, Failure to thrive, Hypocalcemia, Osteoporosis OMIM:212750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Hypophosphatemic Rickets
Osteomalacia, Enthesitis, Hypophosphatemia, Rickets, Failure to thrive, Craniofacial osteoscleros... ORPHA:437
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Elevated circulating... ORPHA:1652
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Rickets, Failure to thrive, Pigm... ORPHA:411629
X-Linked Hypophosphatemia
Vertebral hyperostosis, Enthesitis, Arthritis, Hypophosphatemia, Limitation of joint mobility, Ge... ORPHA:89936
Neu-Laxova Syndrome
Flexion contracture, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposis multiplex co... ORPHA:2671
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein, Joint contracture of the hand... OMIM:309000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Osteomalacia OMIM:600740
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive, Optic disc pallor OMIM:244450
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Retinopathy, Weight loss, Decreased plasma carnitine, Hypophosphatem... OMIM:219800
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Weight loss, Osteomalacia, Decreased plasma carnitine, Hyp... ORPHA:3337
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Osteomalacia, Hypokalemia, Rickets, Failure to thrive, Red... ORPHA:18
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Small for gestational age, Unconjugated hyperbilirubinemia, Joint laxity, Ricke... OMIM:613658
Wilson Disease
Osteomalacia, Decreased circulating ceruloplasmin concentration, Increased circulating copper con... OMIM:277900
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, Recurrent fractures, Osteomalacia, Arthritis, Hypophosp... ORPHA:534
Dubowitz Syndrome
Hypocholesterolemia, Rod-cone dystrophy OMIM:223370
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Occipital Horn Syndrome
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... ORPHA:198
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia ORPHA:405
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypo... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis ORPHA:2636
Generalized Arterial Calcification Of Infancy
Retinal hemorrhage, Osteomalacia, Abnormal retinal artery morphology, Fused cervical vertebrae, A... ORPHA:51608
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Weight loss, Osteomalacia, Arthritis, Elevated circulating C-reactive protein conc... OMIM:619381


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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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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