Analysis Tools
mortality/aging
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• all homozygotes die within 24 hours after birth
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skeleton
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• homozygotes exhibit axial skeleton abnormalities which represent true transformations of segment identities rather than insertion of additional segments by enhanced somitogenesis
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• the number of attached pairs of ribs is increased to 10 or 11, suggesting that segments T8 to T10 or T11 are transformed into more anterior thoracic segments
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• in several mutants, the ribs derived from T2 appear to have a morphology typical of T1 touching the top of the sternum
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• all homozygotes have 4 or 5 extra pairs of ribs for a total of 17 or 18 thoracic vertebrae
(J:55879)
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• mice exhibit an intra-abdominal or an extra-abdominal mass protruding ventrally from the end of the spinal cord and vertebral column
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• remaining vertebrae are deformed compared to in wild-type mice
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• due to caudal truncation, mice lose most of the tail vertebrae compared to in wild-type mice
(J:158173)
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• homozygotes display 6-8 additional presacral vertebrae relative to wild-type mice
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• mice have 17 to 19 thoracic vertebrae compared to 13 in wild-type mice
(J:158173)
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• mice have 7 to 9 lumbar vertebrae compared to 6 in wild-type mice
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• in the sacral and caudal regions, the vertebrae appear severely deformed with extensive fusions of cartilage; the total number of vertebrae in this region is reduced
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• homozygotes show anterior transformations of their vertebrae which are most evident in the thoracic region
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• homozygotes exhibit 17 or 18 thoracic (T) segments instead of the expected 13
• the transitional spinous process and transitional articular processes shift from T10 in wild-type to T13 in mutant mice, whereas the long spinous process shifts from T2 to T3
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• despite a normal number of 7 cervical (C) vertebrae, homozygotes exhibit anterior transformations at the level of C6
• C7 and C6 appear to have been partially transformed to resemble C6 and C5, respectively
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• homozygotes exhibit 7-9 lumbar vertebrae (instead of the expected 6), at least 6 of which must have derived from segments that normally correspond to sacral and caudal vertebrae
• segments normally corresponding to lumbar (L) vertebrae L1 to L4 or L5 are transformed into thoracic segments
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renal/urinary system
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• at birth, nearly all homozygotes exhibit a range of renal anomalies
(J:55879)
• by E14.5, homozygotes show impaired initiation of metanephric development because a ureteric bud fails to form in the posterior region of the Wolffian duct
(J:83365)
• however, all homozygotes display normal development of adrenal glands, male and female reproductive tracts, and bladder
(J:83365)
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• by E12.5, homozygotes show complete absence of nephron-like structures
• metanephric rudiments isolated from E11.5 mutant embryos devoid of ureteric bud formation fail to differentiate in culture
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small kidney
(
J:83365
)
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• 7 out of 47 homozygotes possess smaller kidneys on one or both sides
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• newborns with unilateral renal development display abnormally small kidneys with a reduced number of nephrons
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• 28 out of 47 homozygotes display complete bilateral renal agenesis
(J:83365)
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single kidney
(
J:83365
)
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• 12 out of 47 homozygotes display unilateral kidney agenesis
• newborns with unilateral renal development display abnormally small kidneys and a reduced number of nephrons, despite a normal overall architecture
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absent ureter
(
J:83365
)
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• all homozygotes lacking a kidney on one or both sides also display loss of the corresponding ureter
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• at E11.5, in 17 out of 23 homozygotes, the ureteric bud fails to form and branch into the metanephric mesenchyme, although the Wolffian duct is clearly present
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• at E11.5, the ureteric bud fails to form in 17 out of 23 homozygotes
• however, 6 outof 23 homozygotes display normal uni- or bilateral ureteric bud formation
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limbs/digits/tail
| N |
• mice do not exhibit hindlimb hypoplasia
(J:136243)
• mice exhibit normal limbs
(J:158173)
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• homozygotes exhibit posterior displacement of the hindlimbs relative to the forelimbs
• hindlimb development appears to be delayed
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• remaining vertebrae are deformed compared to in wild-type mice
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• due to caudal truncation, mice lose most of the tail vertebrae compared to in wild-type mice
(J:158173)
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short tail
(
J:55879
)
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• at birth, homozygotes are readily recognizable by their truncated or absent tails
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absent tail
(
J:136243
)
craniofacial
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• at birth, nearly all homozygotes exhibit a range of palate defects
(J:55879)
• absent
(J:136243)
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embryo
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• apparently, mutant mesodermal precursor cells fail to specify positional identity along the A-P axis
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cellular
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• at E12.5, homozygotes with defective ureteric bud formation exhibit extensive apoptosis in the uninvaded metanephric mesenchyme
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digestive/alimentary system
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• at birth, nearly all homozygotes exhibit a range of palate defects
(J:55879)
• absent
(J:136243)
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• the anorectal anatomy are distorted
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• the anorectal anatomy are distorted
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cardiovascular system
| N |
• mice do not exhibit cardiac malformations
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nervous system
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• mice exhibit an intra-abdominal or an extra-abdominal mass protruding ventrally from the end of the spinal cord and vertebral column
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respiratory system
| N |
• mice do not exhibit small lungs or tracheoesophageal malformations
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growth/size/body
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• at birth, nearly all homozygotes exhibit a range of palate defects
(J:55879)
• absent
(J:136243)
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omphalocele
(
J:136243
)
