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
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Umbilical hernia, Severe ... ORPHA:231144
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity ORPHA:254525
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive OMIM:615440
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity ORPHA:254531
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Precocious puberty, Crypt... ORPHA:254516
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Postnatal growth retardation, Precocious puberty, Crypt... ORPHA:96184
Precocious Puberty, Central, 1
Short stature, Isosexual precocious puberty OMIM:176400
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow... OMIM:608747
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Temple Syndrome
Short stature, Small for gestational age, Overweight, Precocious puberty, Cryptorchidism, Obesity... OMIM:616222
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Precocious puberty, Long penis, Clitoral hypertrophy OMIM:262190
Silver-Russell Syndrome
Abnormality of male external genitalia, Short stature, Failure to thrive in infancy, Cachexia, Hy... ORPHA:813
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Long penis, Ovarian cyst, Severe failure to thr... OMIM:246200
Dystonia 28
Precocious puberty, Short stature ORPHA:589618
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Optic Pathway Glioma
Growth delay, Precocious puberty ORPHA:2086
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Fanconi Anemia, Complementation Group C
Small for gestational age, Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, ... OMIM:227645
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous g... ORPHA:90795
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism, Failure to thrive OMIM:614736
Fanconi Anemia, Complementation Group E
Small for gestational age, Short stature, Prolonged G2 phase of cell cycle OMIM:600901
Septopreoptic Holoprosencephaly
Precocious puberty, Ethmoidal encephalocele ORPHA:280195
Fanconi Anemia, Complementation Group A
Small for gestational age, Short stature, Prolonged G2 phase of cell cycle OMIM:227650
19P13.3 Microduplication Syndrome
Growth delay, Intrauterine growth retardation, Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... ORPHA:98793
Kleefstra Syndrome Due To A Point Mutation
Short stature, Large for gestational age, Precocious puberty, Umbilical hernia, Failure to thrive ORPHA:261652
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... ORPHA:177904
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hy... ORPHA:398069
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Slc35A2-Cdg
Precocious puberty, Intrauterine growth retardation, Short stature, Failure to thrive in infancy ORPHA:356961
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... OMIM:201810
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation ORPHA:254346
Ollier Disease
Precocious puberty ORPHA:296
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Hypospadias, Postnatal growth retardation, Precocious puberty, Cryptor... ORPHA:96182
Smith-Magenis Syndrome
Short stature, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty ORPHA:819
Prader-Willi Syndrome
Small scrotum, Short stature, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Extern... OMIM:176270
Prader-Willi Syndrome
Small scrotum, Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hy... ORPHA:739
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Postnatal growth retardation, Precocious puberty, Disproportionate short stature, Tr... OMIM:210720
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism OMIM:619243
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Prolonged G2 phase of cell cycle OMIM:227646
Carpenter Syndrome 1
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Umbilica... OMIM:201000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty ORPHA:91354
9P13 Microdeletion Syndrome
Precocious puberty, Umbilical hernia, Short stature, External genital hypoplasia ORPHA:324313
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Precocious puberty, Disproportionate short stature, Tru... ORPHA:2637
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ... OMIM:202010
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leyd... ORPHA:361
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... ORPHA:2588
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Precocious puberty, Short stature OMIM:163200
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Ovarian neoplasm, Weight loss, Neoplasm of the scrotum, Uterine neoplasm ORPHA:370348
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Precocious puberty, Labial hypertrophy, Cryptorchidism, Umbilical h... ORPHA:96191
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Intrauterine growth retardation, Failure to thrive OMIM:615485
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Precocious puberty, Long penis, Severe postnatal growth retardat... ORPHA:769
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Growth delay, Precocious puberty, Obesity, Proportionate short stature OMIM:619269
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Pallister-Hall Syndrome
Short stature, Precocious puberty, Cryptorchidism, Neonatal death, Intrauterine growth retardatio... OMIM:146510
Mccune-Albright Syndrome
Precocious puberty OMIM:174800
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Fai... ORPHA:2322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Hypospadias OMIM:615877
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Spina bifida ORPHA:2874
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Short stature, Hypospadias, Septate vagina, Precocious puberty, Cry... OMIM:270400
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis ORPHA:96092
Wolf-Hirschhorn Syndrome
Short stature, Small for gestational age, Hypospadias, Precocious puberty, Cryptorchidism, Growth... OMIM:194190
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Ambiguous genitalia, Oligozoospermia, Female pseudohermaphroditism ORPHA:786
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Small for gestational age, Testicular neoplasm, Spina bifida, Postnatal growth retar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Small for gestational age, Testicular neoplasm, Spina bifida, Postnatal growth retar... ORPHA:363958
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Precocious puberty, Ovarian cyst, Macroorchidism, Abnormal testi... ORPHA:562
Alexander Disease
Precocious puberty, Failure to thrive ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Umbilical hernia, Obesity OMIM:301066
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity ORPHA:369837
Aicardi Syndrome
Postnatal growth retardation, Precocious puberty, Spina bifida OMIM:304050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short stature, Precocious puberty, Growth delay, Macroorchidism, Failure to thrive OMIM:619950
Early Infantile Epileptic Encephalopathy
Precocious puberty, Umbilical hernia, Micropenis, Failure to thrive ORPHA:1934
Tay-Sachs Disease
Precocious puberty ORPHA:845
Pallister-Hall Syndrome
Small scrotum, Short stature, Hypospadias, Large for gestational age, Precocious puberty, Cryptor... ORPHA:672
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Floating-Harbor Syndrome
Short stature, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Growth... ORPHA:2044
Sponastrime Dysplasia
Small for gestational age, Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-li... ORPHA:93357
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Increased b... ORPHA:1359
Tolchin-Le Caignec Syndrome
Precocious puberty, Umbilical hernia OMIM:618971
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Short stature, Delayed puberty ORPHA:636
Tuberous Sclerosis 1
Precocious puberty OMIM:191100
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Failure to thrive in infancy, ... ORPHA:904
Tuberous Sclerosis 2
Precocious puberty OMIM:613254
17Q11 Microdeletion Syndrome
Precocious puberty, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Uterine prolapse, Short stature 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.

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
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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