Gene Summary

Name:
FIGNL1 interacting regulator of recombination and mitosis
Synonyms:
FLIP,  BC055324

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
decreased bone mineral density Firrmtm1a(EUCOMM)Hmgu HET Early adult 8.79×10-06
increased circulating alkaline phosphatase level Firrmtm1a(EUCOMM)Hmgu HET Early adult 1.93×10-05
abnormal pelvic girdle bone morphology Firrmtm1b(EUCOMM)Hmgu HET Early adult 5.31×10-08
preweaning lethality, complete penetrance Firrmtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased bone mineral content Firrmtm1a(EUCOMM)Hmgu HET Early adult 6.47×10-06
increased circulating cholesterol level Firrmtm1a(EUCOMM)Hmgu HET Early adult 1.77×10-05
increased circulating amylase level Firrmtm1b(EUCOMM)Hmgu HET Early adult 3.74×10-05
decreased circulating glucose level Firrmtm1a(EUCOMM)Hmgu HET Early adult 1.22×10-05
abnormal bone mineralization Firrmtm1a(EUCOMM)Hmgu HET Early adult 1.33×10-08
preweaning lethality, complete penetrance Firrmtm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating HDL cholesterol level Firrmtm1a(EUCOMM)Hmgu HET Early adult 2.27×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Firrm 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 Firrm by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... ORPHA:1509
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Coxa valga, Hip dysplasia OMIM:613618
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... OMIM:610947
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna... ORPHA:77296
Hypercholanemia, Familial 1
Steatorrhea, Rickets, Increased serum bile acid concentration OMIM:607748
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... ORPHA:1802
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility ORPHA:254531
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Osteoarthritis ORPHA:633
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Hypertriglyceridemia, Bone cyst, Incr... ORPHA:528
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets, Glycosuria OMIM:615605
Temple Syndrome
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Hypertriglycerid... OMIM:616222
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... ORPHA:79237
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Joint ... OMIM:248370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,... ORPHA:79240
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Hypophosphatemia, Fasting hypoglycem... ORPHA:2088
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Hyperlipidemia, Hypoglycemia ORPHA:369
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Hypercholestero... ORPHA:412
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Abnormal tibia morphology, Abnormal hi... ORPHA:2639
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets OMIM:607765
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility ORPHA:96184
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Fasting h... ORPHA:264580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal femur morphology, Bowing of the long ... ORPHA:429
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... OMIM:227810
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Hip dislocation ORPHA:1508
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Brachydactyly, Cuboidal met... ORPHA:968
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Joint hypermobility ORPHA:2479
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Hypop... OMIM:300009
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Brachydactyly, Camptodactyly o... ORPHA:2928
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Type I diabetes mellitus, Rickets OMIM:560000
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:264700
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Gaisböck Syndrome
Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabetes melli... ORPHA:90041
Cystinosis
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Rickets ORPHA:213
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Smith-Magenis Syndrome
Joint stiffness, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthritis, Abnormal circu... OMIM:307800
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... OMIM:277440
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Lysinuric Protein Intolerance
Osteopenia, Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration... ORPHA:470
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Diaphyseal undertubulation, Abnormal fibula ... ORPHA:1803
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemia, Xanthelasma, Hyperlipidemia, Increased susceptibility to fractures, Hyp... ORPHA:79259
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrhea, Conjugated hype... ORPHA:79303
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr... ORPHA:249
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Bifid humerus, Hitchhi... OMIM:256050
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Spars... ORPHA:1652
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus,... OMIM:176270
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Rickets, Recurrent fractures OMIM:268315
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Increased susceptibility to... ORPHA:289157
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Osteomalacia, ... OMIM:309000
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... ORPHA:3337
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Rickets, Hypocalcemia, Steatorrhea, Osteoporosis OMIM:212750
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Osteoporosis OMIM:232200
Mccune-Albright Syndrome
Aneurysmal bone cyst, Increased circulating cortisol level, Osteomalacia, Monostotic fibrous dysp... ORPHA:562
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... ORPHA:89936
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology OMIM:607634
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Infantile Nephropathic Cystinosis
Rickets, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Joint hypermobility OMIM:300972
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypoglycemia, Hypocalcemia, Joint hypermobility, Thin bony ... OMIM:613658
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia... ORPHA:534
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Fractures of the long bones OMIM:166600
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Reduced bone mineral d... ORPHA:18
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Wilson Disease
Hypouricemia, Hypoalbuminemia, Glycosuria, Osteomalacia, Hyperbilirubinemia, Increased circulatin... OMIM:277900
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Broad long bones, Abnormal shoulder morphology, Short pha... ORPHA:1422
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Hypercholesterolemia, Hypertri... OMIM:606721
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Glycosuria, Hypomagnesemia, Hypophosphate... OMIM:219800
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes mellitus ORPHA:273
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology OMIM:600057
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608

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 Firrm

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 Firrm.

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

Order Mouse and ES Cells

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
Firrmtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Firrmtm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Firrmtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Firrmtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Firrmtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter