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
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... ORPHA:231144
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Intrauterine growth retardation, Postnatal growth retardation OMIM:615440
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity, Intrauterine growth retardation, Postnatal growth retardation ORPHA:254525
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Obesity, Proportionate short stature, Increase... ORPHA:759
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Temple Syndrome
Precocious puberty, Short stature, Small for gestational age, Cryptorchidism, Obesity, Postnatal ... ORPHA:254516
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Intrauterine growth retardation, Postnatal growth retardation ORPHA:254531
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity OMIM:618160
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Short stature, Osteopenia, Intrauterine growth retardation, Postnatal grow... OMIM:608747
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Short stature, Small for gestational age, Truncal obesity, Cryptorchidism, Ob... ORPHA:96184
Precocious Puberty, Central, 1
Isosexual precocious puberty, Short stature OMIM:176400
Temple Syndrome
Precocious puberty, Short stature, Small for gestational age, Decreased testicular size, Overweig... OMIM:616222
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
Familial Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Failure to thrive, Oligospermia, Delayed puberty, Cryptorchidism... OMIM:300200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Short stature, Small for gestational age, Long penis, Clitoral hypertrophy OMIM:262190
Silver-Russell Syndrome
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Hypospadias, Cryptorchidi... ORPHA:813
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Donohue Syndrome
Precocious puberty, Long penis, Severe failure to thrive, Ovarian cyst, Intrauterine growth retar... OMIM:246200
Dystonia 28
Precocious puberty, Short stature ORPHA:589618
Optic Pathway Glioma
Precocious puberty, Growth delay ORPHA:2086
Fanconi Anemia, Complementation Group C
Flexion contracture, Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, ... OMIM:227645
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambig... ORPHA:90795
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Growth delay, Gonadal dysgenesis, Cryptorchidism ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Cryptorchidism OMIM:614736
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Precocious puberty, Hypogonadism, External genital hypoplasia, Decreased testicula... ORPHA:398079
Fanconi Anemia, Complementation Group E
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:600901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... ORPHA:98754
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Precocious puberty ORPHA:280195
Fanconi Anemia, Complementation Group A
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:227650
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... ORPHA:98793
19P13.3 Microduplication Syndrome
Growth delay, Unilateral cryptorchidism, Precocious puberty, Intrauterine growth retardation ORPHA:447980
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... ORPHA:177901
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Precocious puberty, Hypogonadism, Short stature, External genital hypoplasia, Decr... ORPHA:398069
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Perineal hypospadias, Bifid scrotum, Mi... OMIM:201810
Woolly Hair Nevus
Precocious puberty ORPHA:79414
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Cryptorchidism, Obesity, Intrauterine growth retardation ORPHA:254346
Slc35A2-Cdg
Precocious puberty, Failure to thrive in infancy, Intrauterine growth retardation, Short stature ORPHA:356961
Prader-Willi-Like Syndrome
Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... ORPHA:398073
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Short stature, Large for gestational age, Failure to thrive, Umbilical hernia ORPHA:261652
Ollier Disease
Precocious puberty ORPHA:296
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Small for gestational age, Severe intrauterine growth retardation, Failure to... ORPHA:96182
Prader-Willi Syndrome
Small scrotum, Precocious puberty, Hypogonadism, Short stature, External genital hypoplasia, Decr... ORPHA:739
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Smith-Magenis Syndrome
Precocious puberty, Short stature, Delayed puberty, Obesity, Failure to thrive in infancy ORPHA:819
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Prader-Willi Syndrome
Small scrotum, Precocious puberty, Short stature, External genital hypoplasia, Hypoplastic labia ... OMIM:176270
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Disproportionate short stature, Hypospadias, Truncal obesity, Intrauterine gr... OMIM:210720
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal testis morphology, Polycystic ovaries, Testicular neoplasm, Obesity,... ORPHA:457059
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism OMIM:619243
Fanconi Anemia, Complementation Group D2
Small for gestational age, Prolonged G2 phase of cell cycle, Short stature OMIM:227646
Carpenter Syndrome 1
Precocious puberty, Short stature, External genital hypoplasia, Spina bifida occulta, Cryptorchid... OMIM:201000
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Weight loss, Testicular adrenal rest tumor, Azoospermi... ORPHA:361
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Short stature, ... OMIM:202010
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormality of female external genitalia, Disproportionate short stature, Tru... ORPHA:2637
9P13 Microdeletion Syndrome
External genital hypoplasia, Umbilical hernia, Precocious puberty, Short stature ORPHA:324313
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty ORPHA:91354
Myhre Syndrome
Precocious puberty, Hypogonadism, External genital hypoplasia, Epispadias, Severe short stature, ... ORPHA:2588
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature OMIM:163200
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Umbilical hernia, Intrauterine growth ret... ORPHA:96191
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm ORPHA:370348
Bainbridge-Ropers Syndrome
Precocious puberty, Failure to thrive, Growth delay, Cryptorchidism, Intrauterine growth retardation OMIM:615485
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Rabson-Mendenhall Syndrome
Precocious puberty, Short stature, Long penis, Severe postnatal growth retardation, Enlarged ovar... ORPHA:769
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Proportionate short stature, Obesity, Growth delay OMIM:619269
Pallister-Hall Syndrome
Precocious puberty, Short stature, Decreased testicular size, Intrauterine growth retardation, Cr... OMIM:146510
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Mccune-Albright Syndrome
Precocious puberty OMIM:174800
Kabuki Syndrome
Precocious puberty, Short stature, Hypoplasia of penis, Failure to thrive, Hypospadias, Cryptorch... ORPHA:2322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty, Rhizomelia OMIM:615877
Phakomatosis Pigmentokeratotica
Spina bifida, Precocious puberty, Cryptorchidism ORPHA:2874
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Short stature, Bifid scrotum, Bicornuate uterus, Intraut... OMIM:270400
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Cryptorchidism ORPHA:96092
Wolf-Hirschhorn Syndrome
Precocious puberty, Short stature, Small for gestational age, Failure to thrive, Hypospadias, Apl... OMIM:194190
Mccune-Albright Syndrome
Macroorchidism, Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, ... ORPHA:562
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Ambiguous genitalia, Precocious puberty, Female pseudohermaphroditism ORPHA:786
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Small for gestational age, Spina bifida, Testicular neoplasm, Hypospadias, Cr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Small for gestational age, Spina bifida, Testicular neoplasm, Hypospadias, Cr... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Obesity, Umbilical hernia OMIM:301066
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Alexander Disease
Failure to thrive, Precocious puberty ORPHA:58
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity ORPHA:369837
Aicardi Syndrome
Spina bifida, Precocious puberty, Postnatal growth retardation OMIM:304050
Hypophosphatemic Rickets
Disproportionate short stature, Failure to thrive, Precocious puberty ORPHA:437
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty, Short stature, Failure to thrive, Growth delay OMIM:619950
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty, Micropenis, Umbilical hernia ORPHA:1934
Tay-Sachs Disease
Precocious puberty ORPHA:845
Floating-Harbor Syndrome
Precocious puberty, Short stature, Small for gestational age, Congenital posterior urethral valve... ORPHA:2044
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Aplasia/Hypoplasia of the vagina, Short stature, Decreas... ORPHA:672
Aicardi Syndrome
Delayed puberty, Precocious puberty ORPHA:50
Sponastrime Dysplasia
Precocious puberty, Rhizomelia, Small for gestational age, Hypospadias, Disproportionate short-li... ORPHA:93357
Carney Complex
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal morphology of female internal... ORPHA:1359
Tolchin-Le Caignec Syndrome
Precocious puberty, Umbilical hernia OMIM:618971
Neurofibromatosis Type 1
Delayed puberty, Precocious puberty, Short stature, Cryptorchidism ORPHA:636
Tuberous Sclerosis 1
Precocious puberty OMIM:191100
Williams Syndrome
Precocious puberty, Short stature, Hypoplasia of penis, Spina bifida occulta, Polycystic ovaries,... ORPHA:904
Tuberous Sclerosis 2
Precocious puberty OMIM:613254
17Q11 Microdeletion Syndrome
Delayed puberty, Precocious puberty, Intrauterine growth retardation, Short stature ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Precocious puberty, Short stature, Cryptorchidism ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682

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.

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MGI Allele Allele Type Produced
Rpl29tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpl29tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rpl29tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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