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Gene: Fam32a MGI:1915172

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Gene Summary

Name:
family with sequence similarity 32, member A
Synonyms:
2510049I19Rik

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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
embryonic lethality prior to organogenesis Fam32aem1(IMPC)Mbp HOM   E9.5 0.00
anophthalmia Fam32aem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Fam32aem1(IMPC)Mbp HET E9.5 0.00
prenatal lethality prior to heart atrial septation Fam32aem1(IMPC)Mbp HOM   E15.5 0.00
abnormal adrenal gland morphology Fam32aem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Fam32aem1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Fam32aem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Fam32aem1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Fam32aem1(IMPC)Mbp HET Early adult 0.00

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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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Human diseases caused by Fam32a 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 Fam32a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen... OMIM:619902
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:615524
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Anencephaly 2
Anophthalmia OMIM:619452
Trisomy 13
Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret... ORPHA:3378
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:251274
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:77298
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Trisomy 1Q
Congenital megaureter, Anophthalmia, Hydronephrosis, Cryptorchidism, Multicystic kidney dysplasia ORPHA:261344
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic c... OMIM:208540
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis ORPHA:139471
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism ORPHA:369929
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Increased circulating androstenedione concentration, Penoscrotal hypospadias,... ORPHA:90791
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... ORPHA:231580
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Macroscopic hematuria, Proteinuria, Membranoproliferative glome... ORPHA:251004
Microphthalmia, Syndromic 9
Renal malrotation, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, Hydro... OMIM:601186
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... OMIM:617303
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi... OMIM:232200
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2189
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi... OMIM:232220
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, ... OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ... ORPHA:264200
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Renal cell carcinoma,... ORPHA:189427
Walker-Warburg Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis ORPHA:899
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Adrenal gland agenesis OMIM:611812
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Renal interstitial immunoglobulin de... ORPHA:449395
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Cryptorch... OMIM:612651
H Syndrome
Delayed puberty, Abnormality of the kidney, Enlarged kidney, Decreased testicular size, Hepatospl... ORPHA:168569
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Pancreatic fibrosis, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hepatomegaly, Anophthalmia, Renal agenesis, Crossed fus... ORPHA:2538
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism OMIM:618188
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts ORPHA:464329
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Cryptorchidism, Proteinuria, Male hypogonadism, Renal insufficiency ORPHA:90321
Vacterl With Hydrocephalus
Microphthalmia, Renal hypoplasia/aplasia, Anophthalmia, Renal agenesis, Cryptorchidism ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:2250
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Adrenal hyperplasia, Precocious puberty, Decreas... ORPHA:786
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Thyroiditis, Nephrol... ORPHA:79259
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Meckel Syndrome
Microphthalmia, Ureteral duplication, Anophthalmia, Pancreatic fibrosis, Pancreatic cysts, Urethr... ORPHA:564
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... ORPHA:505248
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Abnormal renal arter... ORPHA:79328
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Diabetes insipidus, Hypoplasia of penis, Anophthalmia, ... ORPHA:2162
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Renal cyst, Anophthalmia OMIM:615636
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Long penis, Hypercalciuria, Increased circulatin... ORPHA:508
Tetraamelia Syndrome 1
Adrenal gland agenesis, Renal agenesis, Microphthalmia, Urethral atresia OMIM:273395
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Fibular Hemimelia
Renal dysplasia, Anophthalmia ORPHA:93323
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Ogden Syndrome
Enlarged kidney, Maternal diabetes, Polycystic kidney dysplasia, Decreased testicular size, Globa... OMIM:300855
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Charge Syndrome
Delayed puberty, Abnormality of the adrenal glands, Microphthalmia, Anterior hypopituitarism, Ano... ORPHA:138
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hydronephrosis, Hypospadias, Microphthalmia OMIM:236680
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi... OMIM:610829
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Fraser Syndrome 1
Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Renal hypoplasia, ... OMIM:219000
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Microphthalmia, Hypoparat... OMIM:214800
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Abnormality of the hy... OMIM:607932
Proboscis Lateralis
Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesi... ORPHA:141099
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney OMIM:306955
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Hypospadias, Anophthalmia, Abnormal testis morphology, Abnormal penis... ORPHA:2556
Focal Dermal Hypoplasia
Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Hypoplastic nipples, Hydronephrosis... OMIM:305600
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Cryptorchidism, Adrenal insufficiency OMIM:300166
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Unilateral cryptorchidism, Patent urachus, Cryptorchidi... OMIM:618280
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Diabetes insipidus, Long penis, Testicular neoplasm, Enlarged ... ORPHA:744
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased circulating ACTH level, Incr... ORPHA:96253
Fraser Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Urethra... ORPHA:2052
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia ORPHA:1106
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo... ORPHA:99889
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Hydronephrosis, Splenomeg... OMIM:312870
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Nephrocalcinosis, Increased urine... ORPHA:79500
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Renal agenesis, Ectopic thymus tissue, Cry... OMIM:113620
Microphthalmia, Syndromic 1
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi... OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi... OMIM:164210

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 Fam32a

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 Fam32a.

No publications found that use IMPC mice or data for Fam32a.

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
Fam32atm238604(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Fam32atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fam32atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fam32aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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