Phenotypes associated with this allele

• Allele Symbol: Rpl24^Bst
• Allele Name: belly spot and tail
• Allele ID: MGI:1856685
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpl24^Bst/Rpl24^Bst	involves: C57BLKS	MGI:2658855
ht2	Rpl24^Bst/Rpl24^+	involves: C57BLKS	MGI:2658856
cx3	Hcfc1^em1Poche/Hcfc1^+ Rpl24^Bst/Rpl24^+	involves: C57BL/6J * C57BLKS/J	MGI:7310235
cx4	Tg(IghMyc)186Brn/0 Rpl24^Bst/Rpl24^+	involves: C57BL/LiA * C57BLKS * CBA/BrA	MGI:3831134

Genotype
MGI:2658855

hm1

• Allelic Composition: Rpl24^Bst/Rpl24^Bst
• Genetic Background: involves: C57BLKS

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:92052 )

• homozygotes die before embryonic day 9.5

Genotype
MGI:2658856

ht2

• Allelic Composition: Rpl24^Bst/Rpl24⁺
• Genetic Background: involves: C57BLKS

mortality/aging

embryonic lethality, incomplete penetrance ( J:53381 )

• at embryonic day 11.5 only one quarter to one third of embryos from wild-type x heterozygous matings are mutant

prenatal lethality, complete penetrance ( J:28035 )

• Background Sensitivity: smaller litter size likely due to in utero death on the C57BLKS background compared with a mixed background of AKR and C57BLKS

pigmentation

white spotting ( J:28035 , J:43133 )

• white feet (J:28035)

belly spot ( J:13703 , J:78801 )

• white belly spot (J:13703)

vision/eye

impaired pupillary reflex ( J:43133 )

• direct pupilary light response is weak or absent in approximately 60% of heterozygotes with a third of these having a bilateral deficit and the remainder only a unilateral deficit

• detectable as soon as the eyelids open

abnormal optic nerve morphology ( J:43133 )

• 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

absent optic nerve ( J:43133 )

• 23 of 28 heterozygotes with diminished pupillary light response lack an optic nerve

optic nerve coloboma ( J:43133 , J:60921 )

• 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 (J:60921)

optic nerve atrophy ( J:28035 )

• variable unilateral or bilateral atrophy of the optic nerves

optic nerve hypoplasia ( J:43133 )

• 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

• the optic nerves in heterozygotes with normal pupillary light response have fewer axons on average than those of wild-type controls

cataract ( J:60921 )

• anterior and posterior subcapsular and cortical cataracts are present in a minority of affected heterozygotes

abnormal eye development ( J:43133 )

• 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

abnormal optic cup morphology ( J:53381 )

• beginning at embryonic day 10.5 and persisting through embryonic day 13.5 the optic cup is 60 um more shallow than that of wild-type siblings

delayed optic fissure closure ( J:43133 , J:53381 )

• at embryonic day 12 the development of the optic fissure is delayed (J:43133)

• 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 wild-type siblings (J:53381)

persistence of hyaloid vascular system ( J:60921 )

• large hyaloid vessels are present at up to 22 months of age and come from the optic nerve, not the sensory retina

abnormal eye size ( J:53381 )

• at embryonic day 10.5 approximately 25% of heterozygotes have size disparities between the eyes

abnormal retina morphology ( J:43133 , J:60921 )

• 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 (J:43133)

• after 7 months of age retinal detachment, subretinal macrophages, and subretinal neovascularization are found (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 (J:60921)

retina neovascularization ( J:60921 )

• subretinal neovascularization with submacular hemorrhage and fibrosis is found and accompanies most instances of retinal degeneration in these heterozygotes

abnormal retina progenitor cell morphology ( J:53381 )

• beginning at embryonic day 11.5 there is a sparsely cellularized layer formed on the vitreal surface of the dorsal retina

• 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

abnormal retina layer morphology ( J:43133 )

• at embryonic day 12 the layers of the retina are often disrupted

abnormal retina neuronal layer morphology ( J:43133 )

abnormal retina ganglion layer morphology ( J:43133 , J:92052 )

• in the most severely affected heterozygous adults the ganglion cell layer has few cells and these may not be ganglion cells (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 (J:43133)

decreased retina ganglion cell number ( J:43133 )

thin retina ganglion layer ( J:43133 )

thin retina inner nuclear layer ( J:43133 )

• in the most severely affected heterozygotes

disorganized retina inner nuclear layer ( J:43133 )

abnormal retina inner plexiform layer morphology ( J:43133 )

• reduced in thickness

disorganized retina outer nuclear layer ( J:43133 )

retina detachment ( J:43133 , J:60921 )

• in some P0 retinas, the neural retina is buckled, resulting in detachment from the pigment epithelium (J:43133)

• localized, posterior pole, nonrhegmatogenous retinal detachment is found and is usually temporal to the optic nerve (J:60921)

retina fold ( J:43133 , J:60921 )

• in severely affected mice, the inner and outer nuclear layers distorted into folds (J:43133)

• retinal folds are common (J:60921)

retina hypoplasia ( J:43133 )

• surface area of the retina is 10% snmaller, on average, in affected heterozygotes

growth/size/body

decreased embryo size ( J:53381 )

• at embryonic day 9.5 approximately one third of the embryos from wild-type x heterozygous matings are visiblyh smaller than normal

• at embryonic day 10.5 approximately 60% of embryos from wild-type 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

• at embryonic day 11.5 short tailed embryos are 5.9mm instead of the wild-type 6.3mm

• at embryonic day 12.5 short tailed embryos are 8.1mm instead of the wild-type 8.9mm

• at embryonic day 13.5 short tailed embryos are 9.8mm instead of the wild-type 10.6mm

decreased body weight ( J:92052 )

• mutants are 20% smaller than wild-type littermates and this persists into adulthood

limbs/digits/tail

abnormal digit morphology ( J:92052 )

• triphalangeal first digit and and extra preaxial digit are often found

polydactyly ( J:13703 , J:43133 , J:53381 , J:78801 )

• polydactyly affecting one to three feet (J:13703)

• first seen at embryonic day 13.5, principally on the right rear paw (J:53381)

caudal vertebral fusion ( J:92052 )

• mutants can have fused or wedge-shaped hemivertebrae at the sites of tail kinks

decreased caudal vertebrae number ( J:92052 )

• mutants have fewer caudal vertebrae

short tail ( J:13703 , J:78801 )

kinked tail ( J:13703 , J:28035 , J:53381 , J:78801 )

• kinks found as early as embryonic day 12.5 (J:53381)

skeleton

caudal vertebral fusion ( J:92052 )

• mutants can have fused or wedge-shaped hemivertebrae at the sites of tail kinks

decreased caudal vertebrae number ( J:92052 )

• mutants have fewer caudal vertebrae

increased lumbar vertebrae number ( J:92052 )

• mutants have six lumbar vertebrae instead of the wild-type five

nervous system

exencephaly ( J:43133 , J:53381 )

• in approximately 30% of heterozygotes (J:43133)

• found by embronic day 11.5 (J:53381)

decreased retina ganglion cell number ( J:43133 )

abnormal optic nerve morphology ( J:43133 )

• 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

absent optic nerve ( J:43133 )

• 23 of 28 heterozygotes with diminished pupillary light response lack an optic nerve

optic nerve coloboma ( J:43133 , J:60921 )

• 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 (J:60921)

optic nerve atrophy ( J:28035 )

• variable unilateral or bilateral atrophy of the optic nerves

optic nerve hypoplasia ( J:43133 )

• 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

• the optic nerves in heterozygotes with normal pupillary light response have fewer axons on average than those of wild-type controls

behavior/neurological

impaired pupillary reflex ( J:43133 )

• direct pupilary light response is weak or absent in approximately 60% of heterozygotes with a third of these having a bilateral deficit and the remainder only a unilateral deficit

• detectable as soon as the eyelids open

cellular

abnormal cell physiology ( J:92052 )

• pulse labeling shows impaired ribosome biogenesis, particularly of the 28S rRNA

abnormal cell cycle ( J:92052 )

• embryonic fibroblast cultures have a slower doubling time, decreased ratio of G1 to S phase, and an increased length of G1 after serum stimulation

cardiovascular system

pathological neovascularization ( J:60921 )

retina neovascularization ( J:60921 )

• subretinal neovascularization with submacular hemorrhage and fibrosis is found and accompanies most instances of retinal degeneration in these heterozygotes

embryo

decreased embryo size ( J:53381 )

• at embryonic day 9.5 approximately one third of the embryos from wild-type x heterozygous matings are visiblyh smaller than normal

• at embryonic day 10.5 approximately 60% of embryos from wild-type 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

• at embryonic day 11.5 short tailed embryos are 5.9mm instead of the wild-type 6.3mm

• at embryonic day 12.5 short tailed embryos are 8.1mm instead of the wild-type 8.9mm

• at embryonic day 13.5 short tailed embryos are 9.8mm instead of the wild-type 10.6mm

integument

white spotting ( J:28035 , J:43133 )

• white feet (J:28035)

belly spot ( J:13703 , J:78801 )

• white belly spot (J:13703)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
optic atrophy		DOID:5723	OMIM:PS165500	J:28035

Genotype
MGI:7310235

cx3

• Allelic Composition: Hcfc1^em1Poche/Hcfc1⁺; Rpl24^Bst/Rpl24⁺
• Genetic Background: involves: C57BL/6J * C57BLKS/J

mortality/aging

lethality, incomplete penetrance ( J:317822 )

♀ • only 3 viable mice were obtained out of 11 litters

growth/size/body

decreased body size ( J:317822 )

♀ • mice are smaller than single mutant heterozygotes

integument

belly spot ( J:317822 )

♀ • mice exhibit a dramatic expansion of the white bell spot compared to single mutant heterozygotes

limbs/digits/tail

short tail ( J:317822 )

♀ • 2 of the 3 mice have shorter tails than single Rpl24 heterozygotes

pigmentation

belly spot ( J:317822 )

♀ • mice exhibit a dramatic expansion of the white bell spot compared to single mutant heterozygotes

Genotype
MGI:3831134

cx4

• Allelic Composition: Tg(IghMyc)186Brn/0; Rpl24^Bst/Rpl24⁺
• Genetic Background: involves: C57BL/LiA * C57BLKS * CBA/BrA

cellular

cellular phenotype ( J:142390 )

N • number of S phase lymphocytes is more normal

N • lymphocytes with duplicated centrosomes are eliminated or reduced in number

increased apoptosis ( J:142390 )

• double the number of apoptotic lymphocytes as compared to mice with Tg(IghMyc)186Brn alone

immune system

immune system phenotype ( J:142390 )

N • splenomegaly is reduced

neoplasm

neoplasm ( J:142390 )

N • onset of lymphomas is delayed and many mice never develop lymphomas