Analysis Tools
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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short snout
(
J:15012
)
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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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short snout
(
J:15012
)
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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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short humerus
(
J:15012
)
short radius
(
J:15012
)
short femur
(
J:15012
)
short tibia
(
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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• varied penetrance, tail ranges from a small stump to approximately seven-eighths normal length
(J:15012)
• variable tail length ranging from 8-45 mm versus 103 mm for wildtype, but no tailless mice found
(J:13063)
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curly tail
(
J:15012
)
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• the tail is usually kinked and sometimes curled
(J:15012)
• varying number of flexures due to irregular fusion of the vertebrae
(J:13063)
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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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short humerus
(
J:15012
)
short radius
(
J:15012
)
short femur
(
J:15012
)
short tibia
(
J:15012
)
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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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rib fusion
(
J:15012
)
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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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