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Gene: Klhl12 MGI:2385619

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Gene Summary

Name:
kelch-like 12
Synonyms:
C3ip1

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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
persistence of hyaloid vascular system Klhl12em1(IMPC)Tcp HOM Early adult 7.58×10-09
abnormal sternum morphology Klhl12em1(IMPC)Tcp HOM Early adult 0.00
persistence of hyaloid vascular system Klhl12em1(IMPC)Tcp HOM Late adult 3.37×10-10
small adrenal glands Klhl12em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Klhl12em1(IMPC)Tcp HOM Early adult 1.91×10-06

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

21 Images

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Eye Morphology

Images Ophthalmoscopy

112 Images

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Eye Morphology

Images Slit Lamp

99 Images

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Eye Morphology

Images Ophthalmoscopy

179 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

5 Images

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Electrocardiogram (ECG)

Waveform Image

4 Images

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Human diseases caused by Klhl12 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 Klhl12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
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
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fus... ORPHA:95699
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Microphthalmia/Coloboma 12
Optic disc coloboma, Optic nerve aplasia, Chorioretinal coloboma, Remnants of the hyaloid vascula... OMIM:120200
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level, Slender lon... ORPHA:96181
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Doors Syndrome
Optic atrophy, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5th finger... ORPHA:79500
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Short foot, Remnants of the hyaloid vascular system, Small hand ORPHA:2714
Cushing Disease
Optic nerve compression, Increased urinary cortisol level, Adrenal hyperplasia, Pituitary cortico... ORPHA:96253
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phal... OMIM:236680
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Clinodactyly, R... OMIM:620185
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo... ORPHA:99889
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cryptorchid... OMIM:603671
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Retinal detachment, Contracture of the proxi... OMIM:300166
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplastic pelvis OMIM:273395
Craniorachischisis
Bifid sternum ORPHA:63260
Pierson Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorr... OMIM:609049
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hy... OMIM:157170
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600
Neuroocular Syndrome
Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, Prominent fingertip pads... OMIM:619539
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Norrie Disease
Optic atrophy, Delayed puberty, Retinal detachment, Remnants of the hyaloid vascular system, Cryp... ORPHA:649

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological process term vacuolation Klhl12em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term hydropic degeneration Klhl12em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological entity term steatosis Klhl12em1(IMPC)Tcp HOM Early adult

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 Klhl12.

No publications found that use IMPC mice or data for Klhl12.

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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
Klhl12em1(IMPC)Tcp Exon Deletion Mice, Tissue
Klhl12tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells

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