Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ribosomal protein L29
Synonyms:
Rpl43

IMPC Data Collections

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

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.

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 Rpl29 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 Rpl29 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Postnatal growth retardation OMIM:616113
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Umbilical hernia, Small for... ORPHA:231144
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Postnatal growth retardation OMIM:233810
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Obesity ORPHA:254525
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Joint laxity, Postnatal growth retardation OMIM:617093
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Central Precocious Puberty
Proportionate short stature, Isosexual precocious puberty, Increased body weight, Premature thela... ORPHA:759
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Temple Syndrome
Cryptorchidism, Postnatal growth retardation, Small for gestational age, Short stature, Precociou... ORPHA:254516
Spastic Paraplegia With Precocious Puberty
Precocious puberty OMIM:182820
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Obesity ORPHA:254531
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Growth delay, Postnatal growth retardation, Male pseudohermaphroditism, Ob... OMIM:600122
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Postnatal growth retardation, Truncal obesity, Small for gestational age, Short s... ORPHA:96184
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Precocious Puberty, Central, 1
Isosexual precocious puberty, Short stature OMIM:176400
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Short stature OMIM:612847
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Small for gestational age, Short stature, Clitoral hypertrophy, Precocious puberty OMIM:262190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Failure to thrive OMIM:614736
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Delayed puberty, Failure to thrive, Hypogonadotropic h... OMIM:300200
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Postnatal growth retardation, Failure to thrive in in... ORPHA:813
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Donohue Syndrome
Ovarian cyst, Long penis, Clitoral hypertrophy, Postnatal growth retardation, Intrauterine growth... OMIM:246200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche OMIM:145295
Optic Pathway Glioma
Growth delay, Precocious puberty ORPHA:2086
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Polycystic ovar... ORPHA:90795
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism, Precocious puberty ORPHA:3306
9P13 Microdeletion Syndrome
Umbilical hernia, External genital hypoplasia, Precocious puberty, Short stature ORPHA:324313
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Postnatal growth retardation OMIM:179800
Fanconi Anemia, Complementation Group C
Flexion contracture, Small for gestational age, Short stature, Intrauterine growth retardation, P... OMIM:227645
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:398079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:98754
Fanconi Anemia, Complementation Group E
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:600901
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypop... ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:177901
Fanconi Anemia, Complementation Group A
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:227650
Kleefstra Syndrome Due To A Point Mutation
Umbilical hernia, Failure to thrive, Short stature, Large for gestational age, Precocious puberty ORPHA:261652
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Growth delay, Precocious puberty, Unilateral cryptorchidism ORPHA:447980
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prader-Willi-Like Syndrome
Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypoplasia, Clitoral hyp... ORPHA:398073
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Severe intrauterine growth retardation, Postnatal growth retardation, Small for g... ORPHA:96182
19P13.12 Microdeletion Syndrome
Cryptorchidism, Intrauterine growth retardation, Hypospadias, Precocious puberty, Obesity ORPHA:254346
Slc35A2-Cdg
Intrauterine growth retardation, Precocious puberty, Short stature, Failure to thrive in infancy ORPHA:356961
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Bilatera... ORPHA:90793
Ollier Disease
Precocious puberty ORPHA:296
Septopreoptic Holoprosencephaly
Precocious puberty ORPHA:280195
Prader-Willi Syndrome
Abdominal obesity, Cryptorchidism, Premature pubarche, Scrotal hypoplasia, External genital hypop... ORPHA:739
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, External genital hypoplasia, Cl... OMIM:176270
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Disproportionate short stature, Postnatal growth retardation, Truncal obesity, Intrauterine growt... OMIM:210720
Smith-Magenis Syndrome
Failure to thrive in infancy, Delayed puberty, Short stature, Precocious puberty, Obesity ORPHA:819
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal testis morphology, Abnormal penis morphology, Polycystic ovaries, Testicular neoplasm, P... ORPHA:457059
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Precocious puberty OMIM:619243
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Precocious puberty, Hypospadias OMIM:615877
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Truncal obesity, Abnormality of female external genitalia, Intrau... ORPHA:2637
Familial Glucocorticoid Deficiency
Cryptorchidism, Azoospermia, Weight loss, Leydig cell neoplasia, Failure to thrive, Testicular ad... ORPHA:361
Fanconi Anemia, Complementation Group D2
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:227646
Myhre Syndrome
Cryptorchidism, Abnormal penis morphology, Severe short stature, External genital hypoplasia, Hyp... ORPHA:2588
Carpenter Syndrome 1
Cryptorchidism, Umbilical hernia, External genital hypoplasia, Spina bifida occulta, Short statur... OMIM:201000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty ORPHA:91354
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, ... ORPHA:96191
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Precocious puberty, Short stature OMIM:163200
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Severe postnatal growth retardation, Short stature, Intrauterine gr... ORPHA:769
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Growth delay, Precocious puberty, Proportionate short stature OMIM:619269
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Uterine neoplasm, Neoplasm of the scrotum, Precocious puberty ORPHA:370348
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Decreased testicul... ORPHA:90794
Pallister-Hall Syndrome
Cryptorchidism, Neonatal death, Short stature, Intrauterine growth retardation, Decreased testicu... OMIM:146510
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Mccune-Albright Syndrome
Precocious puberty OMIM:174800
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Growth delay, Scrotal hypoplasia, Septate vag... OMIM:270400
Kabuki Syndrome
Cryptorchidism, Failure to thrive, Short stature, Hypospadias, Precocious puberty, Hypoplasia of ... ORPHA:2322
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Micropenis, Precocious puberty ORPHA:96092
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Abnormal testis morphology, Macroorchidism, Precoc... ORPHA:562
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Oligospermia, Female pseudohermaphroditism ORPHA:786
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Cryptorchidism, Spina bifida, Postnatal growth retardation, Small for gestational ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Cryptorchidism, Spina bifida, Postnatal growth retardation, Small for gestational ... ORPHA:363958
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Growth delay, Small for gestational age, Short stature, Fa... OMIM:194190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity ORPHA:369837
Aicardi Syndrome
Spina bifida, Precocious puberty, Postnatal growth retardation OMIM:304050
Alexander Disease
Precocious puberty, Failure to thrive ORPHA:58
Floating-Harbor Syndrome
Cryptorchidism, Growth delay, Epididymal cyst, Small for gestational age, Short stature, Congenit... ORPHA:2044
Hypophosphatemic Rickets
Disproportionate short stature, Precocious puberty, Failure to thrive ORPHA:437
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Micropenis, Precocious puberty, Failure to thrive ORPHA:1934
Non-Specific Syndromic Intellectual Disability
Cryptorchidism, Small scrotum, Precocious puberty, Decreased body weight ORPHA:528084
Sponastrime Dysplasia
Rhizomelia, Small for gestational age, Intrauterine growth retardation, Hypospadias, Precocious p... ORPHA:93357
Tay-Sachs Disease
Precocious puberty ORPHA:845
Aicardi Syndrome
Delayed puberty, Precocious puberty ORPHA:50
Pallister-Hall Syndrome
Ambiguous genitalia, Cryptorchidism, Decreased testicular size, Scrotal hypoplasia, Umbilical her... ORPHA:672
Neurofibromatosis Type 1
Cryptorchidism, Delayed puberty, Precocious puberty, Short stature ORPHA:636
Tuberous Sclerosis 1
Precocious puberty OMIM:191100
Tolchin-Le Caignec Syndrome
Precocious puberty, Umbilical hernia OMIM:618971
Tuberous Sclerosis 2
Precocious puberty OMIM:613254
Williams Syndrome
Cryptorchidism, Umbilical hernia, Failure to thrive in infancy, Polycystic ovaries, Urethral sten... ORPHA:904
17Q11 Microdeletion Syndrome
Intrauterine growth retardation, Delayed puberty, Precocious puberty, Short stature ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Cryptorchidism, Precocious puberty, Short stature ORPHA:438213

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 Rpl29

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 Rpl29.

No publications found that use IMPC mice or data for Rpl29.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Rpl29tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpl29tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) 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