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Former Names C57BLKS-Bst/J (Changed: 15-DEC-04 ) Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Appearance
black with belly spot
Related Genotype: a/a Rpl24Bst/+
black
Related Genotype: a/a +/+Description
Belly spot and tail (Rpl24Bst) is a semidominant, homozygous in utero lethal mutation. Adult heterozygotes are viable and fertile although a reduced birth rate for heterozygotes has been reported. This may reflect incomplete penetrance, or, more likely, prenatal mortality. The Rpl24Bst mutation has variable expressivity and the heterozygous phenotypic traits include shortened and kinked tail, white feet and belly spot, malocclusion, smaller body size, exencephaly, abnormalities of the spine, ocular defects, and polydactyly. Polydactyly is found predominantly in the right rear paw, occasionally in the left front paw and rarely in the left rear or right front paws. Approximately 50-60% of the heterozygotes have a reduction in pupillary light reflex in one or both eyes due to an underlying optic nerve atrophy. Ontological studies showed a delay in the developmental fusion of the optic fissure, a disruption of the retinal layers by embryonic day 15, and smaller optic nerves, and abnormal retinal morphology at postnatal day 0. BrdU labeling revealed a temporary delay of cellular differentiation in the neural retina at embryonic day 10.5. After seven months of age, 19% of heterozygotes have focal, nonrhegmatogenous, retinal detachment accompanied by subretinal neovascularization. Thus, this strain offers a model for human optic atrophy and age-related subretinal neovascularization. (Smith et al., 2000; Tang et al., 1999; Rice et al., 1997; Rice et al., 1995; Harris et al., 1989; Epstein et al., 1986; Southard and Eicher, 1977).
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| Wild-type from the colony | ||
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View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Optic Atrophy 1; OPA1
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
Rpl24Bst/Rpl24+
C57BLKS
- mortality/aging
- complete prenatal lethality
- smaller litter size likely due to in utero death on the C57BLKS background compared with a mixed background of AKR and C57BLKS (MGI Ref ID J:28035)
- partial embryonic lethality
- at embryonic day 11.5 only one quarter to one third of embryos from wildtype x heterozygous matings are mutant (MGI Ref ID J:53381)
- pigmentation phenotype
- white spotting (MGI Ref ID J:43133)
- white feet (MGI Ref ID J:28035)
- vision/eye phenotype
- abnormal eye development
- at birth affected heterozygotes have abnormal neural retina, buckled in severe cases, the optic nerves are smaller than normal and contain fewer axons, and the ganglion cell layer is thinner, with an increase in the number of dying cells (MGI Ref ID J:43133)
- at embryonic day 12 the development of the optic fissure is delayed and the layers of the retina are often disrupted (MGI Ref ID J:43133)
- abnormal optic cup morphology
- beginning at embryonic day 10.5 and persisting through embryonic day 13.5 the optic cup is 60 um more shallow than that of wildtype siblings (MGI Ref ID J:53381)
- abnormal retinal progenitor cell morphology
- delay in the closure of the optic fissure, with less than half of the heterozygous retinas being fused by embryonic day 13.5 when this process is completed in wildtype siblings (MGI Ref ID J:53381)
- beginning at embryonic day 11.5 there is a sparsely cellularized layer formed on the vitreal surface of the dorsal retina (MGI Ref ID J:53381)
- although the proliferation index is normal and cell death in the neuroal retina is normal, BrdU labeling of embyronic day 10.5 shows that there is a delay in exit from the cell cycle in cells of the developing retina (MGI Ref ID J:53381)
- optic nerve coloboma (MGI Ref ID J:43133)
- optic nerve colobomas range from mild loss of nerve fibers on the surface of the optic cup to complete absence of the nerve and severe abnormalities of the peripapillary nerual retina, retinal pigment epithelium, and choroid (MGI Ref ID J:60921)
- persistence of hyaloid vascular system
- large hyaloid vessels are present at up to 22 months of age and come from the optic nerve, not the sensory retina (MGI Ref ID J:60921)
- abnormal eye size
- at embryonic day 10.5 approximately 25% of heterozygotes have size disparities between the eyes (MGI Ref ID J:53381)
- abnormal optic nerve morphology
- variable expressivity in the optic nerve phenotype such that heterozygotes can have optic nerves that are normal, small or missing on one side, or completely absent from both sides (MGI Ref ID J:43133)
- absent optic nerve
- 23 of 28 heterozygotes with diminished pupillary light response lack an optic nerve (MGI Ref ID J:43133)
- optic nerve atrophy
- variable unilateral or bilateral atrophy of the optic nerves (MGI Ref ID J:28035)
- optic nerve hypoplasia
- the optic nerves associated with reduced pupullary light response are smaller than normal, have degenerating fibers, and fewer ganglion cell axons than normal. Despite this, the ipsilateral population of ganglion cells is overrepresented in affected heterozygotes (MGI Ref ID J:43133)
- the optic nerves in heterozygotes with normal pupillary light response have fewer axons on average than those of wild-type controls (MGI Ref ID J:43133)
- abnormal retina morphology
- incomplete expressivity in abnormalities of the retinal morphology leaves some heterozygous adults with normal retinas and the severely affected having distorted organization of the neural retina, particularly the optic disc area, with the inner and outer nuclear layers distorted into folds, rosettes, or colobomas (MGI Ref ID J:43133)
- after 7 months of age retinal detachment, subretinal macrophages, and subretinal neovascularization are found (MGI Ref ID J:60921)
- retinal folds and small patches of retinal thinning are common and in 21% of affected heterozygotes small patches of retinal dysplasia are found close to the optic nerve or in the peripheral retina (MGI Ref ID J:60921)
- abnormal retinal neuronal layer morphology (MGI Ref ID J:43133)
- abnormal retinal ganglion layer morphology (MGI Ref ID J:92052)
- in the most severely affected heterozygous adults the ganglion cell layer has few cells and these may not be ganglion cells (MGI Ref ID J:43133)
- an increase in ectopic ipsilaterally projecting ganglion cells, outside of the ventrotemporal part of the retina, is found in heterozygotes with a small optic nerve (MGI Ref ID J:43133)
- abnormal retinal inner plexiform layer morphology
- reduced in thickness (MGI Ref ID J:43133)
- disorganized retinal inner nuclear layer (MGI Ref ID J:43133)
- disorganized retinal outer nuclear layer (MGI Ref ID J:43133)
- thin retinal inner nuclear layer
- in the most severely affected heterozygotes (MGI Ref ID J:43133)
- abnormal retinal progenitor cell morphology
- delay in the closure of the optic fissure, with less than half of the heterozygous retinas being fused by embryonic day 13.5 when this process is completed in wildtype siblings (MGI Ref ID J:53381)
- beginning at embryonic day 11.5 there is a sparsely cellularized layer formed on the vitreal surface of the dorsal retina (MGI Ref ID J:53381)
- although the proliferation index is normal and cell death in the neuroal retina is normal, BrdU labeling of embyronic day 10.5 shows that there is a delay in exit from the cell cycle in cells of the developing retina (MGI Ref ID J:53381)
- retina hypoplasia
- surface area of the retina is 10% snmaller, on average, in affected heterozygotes (MGI Ref ID J:43133)
- retinal detachment
- retinal neovascularization
- subretinal neovascularization with submacular hemorrhage and fibrosis is found and accompanies most instances of retinal degeneration in these heterozygotes (MGI Ref ID J:60921)
- cataracts
- anterior and posterior subcapsular and cortical cataracts are present in a minority of affected heterozygotes (MGI Ref ID J:60921)
- impaired pupillary reflex
- growth/size phenotype
- decreased body weight
- mutants are 20% smaller than wild-type littermates and this persists into adulthood (MGI Ref ID J:92052)
- decreased embryo size
- at embryonic day 9.5 approximately one third of the embryos from wildtype x heterozygous matings are visiblyh smaller than normal (MGI Ref ID J:53381)
- at embryonic day 10.5 approximately 60% of embryos from wildtype x heterozygous matings are normal size and the remainder are either small, defined as <4mm crown to rump length, or diminutive, defined as <3.5mm crown to rump length, with most of the cells in the diminutive embryos being apoptotic according to TUNEL staining (MGI Ref ID J:53381)
- at embryonic day 11.5 short tailed embryos are 5.9mm instead of the wildtype 6.3mm (MGI Ref ID J:53381)
- at embryonic day 12.5 short tailed embryos are 8.1mm instead of the wildtype 8.9mm (MGI Ref ID J:53381)
- at embryonic day 13.5 short tailed embryos are 9.8mm instead of the wildtype 10.6mm (MGI Ref ID J:53381)
- limbs/digits/tail phenotype
- abnormal digit morphology
- triphalangeal first digit and and extra preaxial digit are often found (MGI Ref ID J:92052)
- caudal vertebral fusion
- mutants can have fused or wedge-shaped hemivertebrae at the sites of tail kinks (MGI Ref ID J:92052)
- decreased caudal vertebrae number
- mutants have fewer caudal vertebrae (MGI Ref ID J:92052)
- kinked tail (MGI Ref ID J:13703)
- kinks found as early as embryonic day 12.5 (MGI Ref ID J:53381)
- short tail (MGI Ref ID J:13703)
- first evident at embryonic day 11.5 (MGI Ref ID J:53381)
- skeleton phenotype
- caudal vertebral fusion
- mutants can have fused or wedge-shaped hemivertebrae at the sites of tail kinks (MGI Ref ID J:92052)
- decreased caudal vertebrae number
- mutants have fewer caudal vertebrae (MGI Ref ID J:92052)
- increased lumbar vertebrae number
- mutants have six lumbar vertebrae instead of the wild-type five (MGI Ref ID J:92052)
- nervous system phenotype
- abnormal optic nerve morphology
- variable expressivity in the optic nerve phenotype such that heterozygotes can have optic nerves that are normal, small or missing on one side, or completely absent from both sides (MGI Ref ID J:43133)
- absent optic nerve
- 23 of 28 heterozygotes with diminished pupillary light response lack an optic nerve (MGI Ref ID J:43133)
- optic nerve atrophy
- variable unilateral or bilateral atrophy of the optic nerves (MGI Ref ID J:28035)
- optic nerve hypoplasia
- the optic nerves associated with reduced pupullary light response are smaller than normal, have degenerating fibers, and fewer ganglion cell axons than normal. Despite this, the ipsilateral population of ganglion cells is overrepresented in affected heterozygotes (MGI Ref ID J:43133)
- the optic nerves in heterozygotes with normal pupillary light response have fewer axons on average than those of wild-type controls (MGI Ref ID J:43133)
- decreased retinal ganglion cell number (MGI Ref ID J:43133)
- exencephaly
- behavior/neurological phenotype
- impaired pupillary reflex
- cellular phenotype
- abnormal cell physiology
- pulse labeling shows impaired ribosome biogenesis, particularly of the 28S rRNA (MGI Ref ID J:92052)
- abnormal cell cycle
- embryonic fibroblast cultures have a slower doubling time, decreased ratio of G1 to S phase, and an increased length of G1 after serum stimulation (MGI Ref ID J:92052)
- cardiovascular system phenotype
- pathological neovascularization (MGI Ref ID J:60921)
- retinal neovascularization
- subretinal neovascularization with submacular hemorrhage and fibrosis is found and accompanies most instances of retinal degeneration in these heterozygotes (MGI Ref ID J:60921)
- embryogenesis phenotype
- decreased embryo size
- at embryonic day 9.5 approximately one third of the embryos from wildtype x heterozygous matings are visiblyh smaller than normal (MGI Ref ID J:53381)
- at embryonic day 10.5 approximately 60% of embryos from wildtype x heterozygous matings are normal size and the remainder are either small, defined as <4mm crown to rump length, or diminutive, defined as <3.5mm crown to rump length, with most of the cells in the diminutive embryos being apoptotic according to TUNEL staining (MGI Ref ID J:53381)
- at embryonic day 11.5 short tailed embryos are 5.9mm instead of the wildtype 6.3mm (MGI Ref ID J:53381)
- at embryonic day 12.5 short tailed embryos are 8.1mm instead of the wildtype 8.9mm (MGI Ref ID J:53381)
- at embryonic day 13.5 short tailed embryos are 9.8mm instead of the wildtype 10.6mm (MGI Ref ID J:53381)
- integument phenotype
- white spotting (MGI Ref ID J:43133)
- white feet (MGI Ref ID J:28035)
Rpl24Bst/Rpl24Bst
C57BLKS
- mortality/aging
- complete embryonic lethality
- homozygotes die before embryonic day 9.5 (MGI Ref ID J:92052)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Rpl24Bst related
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Embryonic Lethality (Homozygous)
Eye Defects
Growth Defects
Neurodevelopmental Defects
Skeletal Defects
Neurobiology Research
Neurodevelopmental Defects
Research Tools
Developmental Biology Research
Neurobiology Research
Sensorineural Research
Eye Defects
autosomal dominant optic atrophy ADOA
Retinal Degeneration
| Allele Symbol | Rpl24Bst | ||
|---|---|---|---|
| Allele Name | belly spot and tail | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Bst; | ||
| Strain of Origin | C57BLKS/J | ||
| Gene Symbol and Name | Rpl24, ribosomal protein L24 | ||
| Chromosome | 16 | ||
| Gene Common Name(s) | 0610008L05Rik; Bst; L24; RIKEN cDNA 0610008L05 gene; belly spot and tail; | ||
| Molecular Note | A 4 bp deletion disrupts the first intron branchpoint and causes abnormal splicing with retention of intron 1. The deletion removes a critical adenosine that reacts to form the lariat intermediate. PCR indicated that this is a hypomorphic allele where heterozygotes have approximately 60% of normal transcript levels and homozygotes have 20%. [MGI Ref ID J:92052] | ||
Aijaz S; Erskine L; Jeffery G; Bhattacharya SS; Votruba M. 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 45(6):1667-73. [PubMed: 15161824] [MGI Ref ID J:92284]
Delettre C; Lenaers G; Belenguer P; Hamel CP. 2003. Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus. BMC Genet 4(1):8. [PubMed: 12735796] [MGI Ref ID J:83833]
Epstein R; Davisson M; Lehmann K; Akeson EC; Cohn M. 1986. Position of Igl-1, md, and Bst loci on chromosome 16 of the mouse. Immunogenetics 23(2):78-83. [PubMed: 3082752] [MGI Ref ID J:8234]
Rice DS; Tang Q; Williams RW; Harris BS; Davisson MT; Goldowitz D. 1997. Decreased retinal ganglion cell number and misdirected axon growth associated with fissure defects in Bst/+ mutant mice. Invest Ophthalmol Vis Sci 38(10):2112-24. [PubMed: 9331275] [MGI Ref ID J:43133]
Rice DS; Williams RW; Ward-Bailey P; Johnson KR; Harris BS; Davisson MT; Goldowitz D. 1995. Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mamm Genome 6(8):546-8. [PubMed: 8589526] [MGI Ref ID J:28035]
Tang Q; Rice DS; Goldowitz D. 1999. Disrupted retinal development in the embryonic belly spot and tail mutant mouse. Dev Biol 207(1):239-55. [PubMed: 10049578] [MGI Ref ID J:53381]
Rpl24Bst relatedAijaz S; Erskine L; Jeffery G; Bhattacharya SS; Votruba M. 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 45(6):1667-73. [PubMed: 15161824] [MGI Ref ID J:92284]
Barkic M; Crnomarkovic S; Grabusic K; Bogetic I; Panic L; Tamarut S; Cokaric M; Jeric I; Vidak S; Volarevic S. 2009. The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival. Mol Cell Biol 29(10):2489-504. [PubMed: 19273598] [MGI Ref ID J:148991]
Barna M; Pusic A; Zollo O; Costa M; Kondrashov N; Rego E; Rao PH; Ruggero D. 2008. Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency. Nature 456(7224):971-5. [PubMed: 19011615] [MGI Ref ID J:142390]
Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269] [MGI Ref ID J:156373]
Epstein R; Davisson M; Lehmann K; Akeson EC; Cohn M. 1986. Position of Igl-1, md, and Bst loci on chromosome 16 of the mouse. Immunogenetics 23(2):78-83. [PubMed: 3082752] [MGI Ref ID J:8234]
Hsieh AC; Costa M; Zollo O; Davis C; Feldman ME; Testa JR; Meyuhas O; Shokat KM; Ruggero D. 2010. Genetic dissection of the oncogenic mTOR pathway reveals druggable addiction to translational control via 4EBP-eIF4E. Cancer Cell 17(3):249-61. [PubMed: 20227039] [MGI Ref ID J:158661]
Kondrashov N; Pusic A; Stumpf CR; Shimizu K; Hsieh AC; Xue S; Ishijima J; Shiroishi T; Barna M. 2011. Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell 145(3):383-97. [PubMed: 21529712] [MGI Ref ID J:173414]
Oliver ER; Saunders TL; Tarle SA; Glaser T. 2004. Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute. Development 131(16):3907-20. [PubMed: 15289434] [MGI Ref ID J:92052]
Rice DS; Tang Q; Williams RW; Harris BS; Davisson MT; Goldowitz D. 1997. Decreased retinal ganglion cell number and misdirected axon growth associated with fissure defects in Bst/+ mutant mice. Invest Ophthalmol Vis Sci 38(10):2112-24. [PubMed: 9331275] [MGI Ref ID J:43133]
Rice DS; Williams RW; Ward-Bailey P; Johnson KR; Harris BS; Davisson MT; Goldowitz D. 1995. Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mamm Genome 6(8):546-8. [PubMed: 8589526] [MGI Ref ID J:28035]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Smith RS; John SW; Zabeleta A; Davisson MT; Hawes NL; Chang B. 2000. The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Proc Natl Acad Sci U S A 97(5):2191-5. [PubMed: 10681427] [MGI Ref ID J:60921]
Southard JL; Eicher EM. 1977. Bst. Mouse News Lett 56:40. [MGI Ref ID J:13703]
Tang Q; Rice DS; Goldowitz D. 1999. Disrupted retinal development in the embryonic belly spot and tail mutant mouse. Dev Biol 207(1):239-55. [PubMed: 10049578] [MGI Ref ID J:53381]
| Pricing for USA, Canada and Mexico shipping destinations |
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Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $170.25 Female or Male Heterozygous for Rpl24Bst
Price per Pair (US dollars $) Pair Genotype $240.25 Heterozygous for Rpl24Bst x Wild-type for Rpl24Bst $240.25 Wild-type for Rpl24Bst x Heterozygous for Rpl24Bst Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Pricing for International shipping destinations |
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Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $221.40 Female or Male Heterozygous for Rpl24Bst
Price per Pair (US dollars $) Pair Genotype $312.40 Heterozygous for Rpl24Bst x Wild-type for Rpl24Bst $312.40 Wild-type for Rpl24Bst x Heterozygous for Rpl24Bst Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
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Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Control | ||
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| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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