Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• at embryonic day 4.5 of heterozygous intercrosses there are fewer than the Mendelian expected 25% abnormal, presumed homozygous, embryos and the litter size is reduced suggesting the loss of some homozygotes between embryonic days 3.5 and 4.5
(J:6315)
• the number of implantations at 7 and 8 days of pregnancy in heterozygous intercrosses is a quarter less than normal indicating that homozygotes die before implantation or soon afterwards
(J:15012)
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• all are detectable as unhealthy morula at embryonic day 3.5 and are dead by E5.5
• in vitro culturing does not rescue embryos
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cellular
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• in embryonic day 3.5 presumed homozygous embryos nucleoli appear very ragged in outline and irregularly distribted in th nucleoplasm
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embryo
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• retarded cell division begins after the third cleavage such that there are only half the normal number of cells on embryonic day 3.5 and 20% the normal number on embryonic day 4.5
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• at embryonic day 3.5 there are approximately 13.7 cells per embryo instead of the normal 30.3, haematoxylin staining is much more pale, and the nucleoli often appear ragged in outline and irregularly ditributed throughout the nucleoplasm
• at embryonic day 4.5 presumed homozygotes are retarded in developmental stage and cell number such that there is no clear delineation into inner cell mass and trophoblast, and these presumed homozygotes do not show signs of invasiveness when littermates are undergoing uterine attachment
• at embryonic day 5.5 there are very few abnormal embryos compared with earlier timepoints and these are in various stages of degeneration
• embryonic culture beginning at approximately day 3.5 confirms the in vivo findings
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• due to reduced number of embryonic cells
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• at embryonic day 3.5 presumed homozygotes have not formed a blastocoele
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growth/size/body
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• due to reduced number of embryonic cells
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: no mutant offspring were found in this cross and litters average 3.53 pups instead of 7.74, so tail short is believed to be a complete heterozygous lethal when crossed to the A inbred background
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: half of the tailless mutants are born dead and some of these are almost devoid of blood and sometimes lack vescera
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limbs/digits/tail
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• frequency is approximately 80% on the left forefoot, 10-15% on the right forefoot, and less than 10% on the hindfeet
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• more common than oligodactyly and nearly always present in tailless heterozygotes
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• on occassion foreleg shortened and turned mediad such that it resembles a flipper
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• Background Sensitivity: none of the (BALB/c x C3H)F1 mice have tails, far more severe than the short tail phenotype of the BALB/c background
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growth/size/body
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• non-fusion of the nasals at the anterior end of the skull is often found
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• Background Sensitivity: shorter than heterozygotes on the BALB/c background and only approximnately two-thirds the body length of wildtype F1 controls
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skeleton
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• Background Sensitivity: in all of the tailless subset
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• Background Sensitivity: in all of the tailless subset
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• non-fusion of the nasals at the anterior end of the skull is often found
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reproductive system
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• Background Sensitivity: none of the 4 surviving tailless heterozygotes bred; the one surviving female tailless heterozygote birthed one litter of 3 pups then died
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hematopoietic system
nervous system
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• Background Sensitivity: some of the tailless subset are found to have spina bifida and even a dorsal cephalic opening due to failure of cranial fusion over the brain
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• Background Sensitivity: in some of the tailless subset
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pigmentation
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• Background Sensitivity: tailless subset of mutants have white hairs on the front legs that looks like white stockings
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craniofacial
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• Background Sensitivity: in all of the tailless subset
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• Background Sensitivity: in all of the tailless subset
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• non-fusion of the nasals at the anterior end of the skull is often found
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embryo
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• Background Sensitivity: some of the tailless subset are found to have spina bifida and even a dorsal cephalic opening due to failure of cranial fusion over the brain
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• Background Sensitivity: in some of the tailless subset
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integument
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• Background Sensitivity: tailless subset of mutants have white hairs on the front legs that looks like white stockings
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respiratory system
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• non-fusion of the nasals at the anterior end of the skull is often found
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: this hybrid background yields a very mild phenotype such that more than half of the mutants are have a normal body length at birth and they have a less kinked, longer tail than the mutants do on the pure BALB/c background
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: this hybrid background yields a slightly milder phenotype such that most mutants have a phenotype similar to that on the pure BALB/c background, but a few have tails longer than one-half normal length
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: no short tailed mice are generated, only a small number of tailless mice indicating a more severe expressivity with the DBA background
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: the phenotype is similar to that found in pure BALB/c
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: the phenotype is similar to that found in pure BALB/c
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: the phenotype is similar to that found on the pure BALB/c background regardless of the presence or absence of lethal yellow
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• Background Sensitivity: the outcross to a C57BL/6J background resulted in a shorter average tail length than on the pure TSJ/Le background
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• Background Sensitivity: the short tail phenotype is entirely missing from litters at wean age and litters are smaller than normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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mortality/aging
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• normal segregation at embryonic day 17 from matings of heterozygote x wildtype, but less than Mendelian predicted ratio at birth
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craniofacial
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• in the short-snouted heterozygotes
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• greater width of the frontal bones
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• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways
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• in the most severely affected
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growth/size/body
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• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways
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• in the most severely affected
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• by embryonic day 14 there is a developmental delay of approximately 1 day, but by embyronic day 17 this delay is decreased
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• evident as early as embryonic day 9
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• mutants weigh considerably less at birth and this persists throughout life
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• slightly shortened body length of 85-95 mm versus 101 mm wildtype
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limbs/digits/tail
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• in a few cases the front paw is shortened and turned inward resembling a flipper
(J:15012)
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• feet can have fusions, absence of bones, and extra phalanges
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• common in heterozygotes and take place at all angles
(J:15012)
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• there are fewer caudal vertebrae than normal and these are smaller than normal
(J:15012)
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• variable tail length ranging from 8-45 mm versus 103 mm for wildtype, but no tailless mice found
(J:13063)
• varied penetrance, tail ranges from a small stump to approximately seven-eighths normal length
(J:15012)
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• varying number of flexures due to irregular fusion of the vertebrae
(J:13063)
• the tail is usually kinked and sometimes curled
(J:15012)
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embryo
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• blood vessels are paler, thinner, fewer in the placenta and yolk sac
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• by embryonic day 14 there is a developmental delay of approximately 1 day, but by embyronic day 17 this delay is decreased
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• although nornmal at embryonic day 9, at embryonic day 10 to 11 the neural tube and notochord change shape, thickness and position several times along the length of the tail and the last somite is closer than normal to the tail tip. The neural tube is not affected in the trunk region until embryonic day 12 to 13 when it is thinner and when there are significant irregularities of shape and position of the notochord and neural tube.
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• although nornmal at embryonic day 9, at embryonic day 10 to 11 the neural tube and notochord change shape, thickness and position several times along the length of the tail and the last somite is closer than normal to the tail tip. The neural tube is not affected in the trunk region until embryonic day 12 to 13 when it is thinner and when there are significant irregularities of shape and position of the notochord and neural tube.
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skeleton
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• in the short-snouted heterozygotes
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• greater width of the frontal bones
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• feet can have fusions, absence of bones, and extra phalanges
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• there are fewer caudal vertebrae than normal and these are smaller than normal
(J:15012)
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• the length of the left humerus is shorter and the length of the right tibia is shorter than normal resulting in lopsided leg length, and the radius and femur are also shortened in some instances
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• in some heterozygotes the fifth sternebra appears to have been formed from two separate elements
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• an extra sternebra is found in some heterozygotes
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• sternebrae fusions are found in some heterozygotes
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• an additional pair of ribs is found along with the increase in thoracic vertebrae
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• heterozygotes usually have 14 instead of the usual 13 thoracic vertebrae
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• 4th sacral vertebrae often often has laterally directed transverse processes and well defined alae sacrales whereas normally the 4th sacral vertebrae has anteriorly directed transverse processes without well defined alae sacrales
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• gaps in the vertebral arch or centrum
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• the vertebrae most susceptible to fusion are cervical 3 and 4 and thoracic 9, 10, and 11
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• common in heterozygotes and take place at all angles
(J:15012)
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hematopoietic system
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• anemia is reported from embryonic day 9, pronounced at embryonic day 14, but newborns are not anemic
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cardiovascular system
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• blood vessels are paler, thinner, fewer in the placenta and yolk sac
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• at embryonic day 12 to 13 the atrium is abnormally large, the verntricle abnormally small, the walls of the ventricle are thin and the trabeculae poorly developed, but the heart is normal at embryonic day 17
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respiratory system
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• nasals are short, malformed and usually fused to the frontals, and the nasal processes are greadly reduced and sometimes bent sideways
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nervous system
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• although nornmal at embryonic day 9, at embryonic day 10 to 11 the neural tube and notochord change shape, thickness and position several times along the length of the tail and the last somite is closer than normal to the tail tip. The neural tube is not affected in the trunk region until embryonic day 12 to 13 when it is thinner and when there are significant irregularities of shape and position of the notochord and neural tube.
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• the brain is shortened longitudinally especially the olfactory region
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Allelic
Composition |
Rpl38Ts/Rpl38+
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Genetic
Background |
involves: BALB/c |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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embryo
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• histology at embyronic day 9.5 shows many sections of the perinotochordal sheath are normal while nearby sections have varying degrees of disintegration of the notochordal sheath
• lateral defelection of the notocord also confirmed at embryonic day 9.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl38Ts mutation
(2 available);
any
Rpl38 mutation
(18 available)
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limbs/digits/tail
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• as early as embryonic day 11
(J:6184)
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hematopoietic system
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• the changes in the three hemoglobins expressed during fetal development from embryonic day 10 to 15 are normal
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• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal
• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices
• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls
• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts
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hearing/vestibular/ear
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• excess deposition of fine crystals frequently filling the entire cavity
• in some cases crystals surround and even cover the stapes
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
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• enlarged at 3, 4, 12 and 36 weeks of age
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• increased thresholds to click and 8 kHz stimuli at 4 weeks of age
• at 8 weeks of age thresholds are increased at 8, 16, and 32 kHz, the average increase is 28db
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• decrease in emissions at the tone 1 = 75 db stimulus level over a wide range of frequencies at 3 weeks of age
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• chronic inflammation with effusion
• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated
from the underlying bone
• inflammation persists at 36 and 56 weeks of age
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craniofacial
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
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growth/size/body
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• at embryonic day 11 mutants and wildtype can not be readily distinguished by growth retardation, but at embryonic day 12 mutants are clearly smaller and an approximately 1 day delay in development persists and is evident in reduced fetal weight and placental weight
• although the total hemoglobin content is lower in age matched mutant and wildtype embryos the ratio of hemoglobin content to embryo weight is normal indicating that the diminished hemoglobin level is part of the embryonic growth retardation
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• in a small number of embryos
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nervous system
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• in a small number of embryos
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homeostasis/metabolism
embryo
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• at embryonic day 11 mutants and wildtype can not be readily distinguished by growth retardation, but at embryonic day 12 mutants are clearly smaller and an approximately 1 day delay in development persists and is evident in reduced fetal weight and placental weight
• although the total hemoglobin content is lower in age matched mutant and wildtype embryos the ratio of hemoglobin content to embryo weight is normal indicating that the diminished hemoglobin level is part of the embryonic growth retardation
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• embryonic day 12-14 primitive nucleated erythrocytes have less hemoglobin content per cell than normal
• embryonic day 11-13 primitive nucleated erythrocytes have increased mitotic indices
• embryonic day 13 only 7% of the circulating cells are small non-nucleated erythrocytes compared with one third of the circulating cells in wildtype controls
• delayed fetal hepatic erythropoiesis wherein embyronic day 12 mutants have primarily immature erythroid precursors and wildtype controls have many immature and mature erythroblasts
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immune system
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• chronic inflammation with effusion
• at 2 weeks of age the periosteal layer appears dilated, swollen, and delaminated
from the underlying bone
• inflammation persists at 36 and 56 weeks of age
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skeleton
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
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• at 3 weeks of age large aggregates of fine crystals are often seen within the round window and at the oval window
• at 3 weeks of age locally restricted neo-ossification is seen on the round window ridge
• at 11 weeks of age there is a 1.5 fold increase in the volume of ectopic endochondral bone on the round window ridge
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Analysis Tools