Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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mortality/aging
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• >98% of homozygotes die perinatally of gastroschisis
• in ~2% of newborns, the ventral body wall defect heals spontaneously without herniation of the abdominal viscera; these rare survivors are fertile and give rise to viable offspring
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craniofacial
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• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate
• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull
• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures
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limbs/digits/tail
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• polydactyly is associated with the formation of an ectopic anterior zone of polarizing activity (ZPA)
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• all homozygotes show preaxial polydactyly or the presence of an extra digit on the anterior aspect of the limb
• every limb of every mutant newborn displays an extra digit; occasionally the extra digit represents a bifurcated first digit, and rarely two extra digits are present
• mutant limbs exhibit abnormal anterior-posterior patterning: the extra digits have posterior character (e.g. three phalanges)
• the extra digit arises from the anterior aspect of the limb bud
• no abnormalities are detected in more proximal skeletal elements of the limbs
• polydactyly is associated with the formation of an ectopic anterior ZPA
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skeleton
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• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate
• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull
• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures
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growth/size/body
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• >98% of homozygotes exhibit gastroschisis, a ventral body wall defect resulting in herniation of abdominal contents
• the herniation is caused by complete absence of ventral abdominal wall musculature, and is associated with reduced skin thickness
• in most cases, the ventral body wall defect is first noted at ~E15.5 and herniation occurs in utero; occasionally, herniation occurs at birth
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embryo
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• polydactyly is associated with the formation of an ectopic anterior zone of polarizing activity (ZPA)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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|
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mortality/aging
|
|
• >98% of homozygotes die perinatally of gastroschisis
• in ~2% of newborns, the ventral body wall defect heals spontaneously without herniation of the abdominal viscera; these rare survivors are fertile and give rise to viable offspring
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craniofacial
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|
• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate
• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull
• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures
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skeleton
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• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate
• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull
• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures
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growth/size/body
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• >98% of homozygotes exhibit gastroschisis, a ventral body wall defect resulting in herniation of abdominal contents
• the herniation is caused by complete absence of ventral abdominal wall musculature, and is associated with reduced skin thickness
• in most cases, the ventral body wall defect is first noted at ~E15.5 and herniation occurs in utero; occasionally, herniation occurs at birth
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Allelic
Composition |
Alx4tm1Rwi/Alx4+
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Genetic
Background |
involves: 129S6/SvEvTac |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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normal phenotype
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• heterozygotes are apparently normal and do NOT display polydactyly
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Allelic
Composition |
Alx4tm1Rwi/Alx4+
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Genetic
Background |
involves: 129S6/SvEvTac * C57BL/6J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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limbs/digits/tail
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• notably, heterozygous F1 progeny of a 129/Sv x C57BL/6J mating display hindlimb polydactyly
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Allelic
Composition |
Alx4tm1Rwi/Alx4+
Bmp4tm1Blh/Bmp4+
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Genetic
Background |
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
Bmp4tm1Blh mutation
(2 available);
any
Bmp4 mutation
(21 available)
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limbs/digits/tail
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• all double heterozygotes exhibit ectopic anterior digits only on the hindlimbs
• extra digit extends from a duplicated metatarsal
• extra digits are triphalangeal
• post axial "nubbins" also seen on the forelimbs of 80% of heterozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation
(0 available);
any
Alx1 mutation
(22 available)
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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craniofacial
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• double homozygous mutants show a midline fusion defect that results in cleft face
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limbs/digits/tail
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• double homozygous mutants have an increased number of digits (usually 7 on the hindlimb, and 6 or 7 on the forelimb) with variable expressivity
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• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity
• in contrast, single mutant mice never display hemimelia
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skeleton
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• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity
• in contrast, single mutant mice never display hemimelia
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• double homozygous mutants exhibit a unique sternal phenotype not present in either single mutant: all homozygotes have a split sternum
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• double homozygotes show abnormal rib insertions
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• some double homozygotes display a reduction in the number of ribs attached to the sternum
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nervous system
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• all double homozygous mutants display exencephaly
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growth/size/body
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• double homozygous mutants show a midline fusion defect that results in cleft face
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• at E19.5, double homozygous mutants show severe abdominal wall defects and herniation of abdominal contents
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Allelic
Composition |
Alx1tm1Crm/Alx1+
Alx4tm1Rwi/Alx4+
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Genetic
Background |
involves: 129S6/SvEvTac * 129S7/SvEvBrd |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation
(0 available);
any
Alx1 mutation
(22 available)
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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normal phenotype
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• double heterozygotes appear phenotypically normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation
(0 available);
any
Alx1 mutation
(22 available)
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
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craniofacial
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• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull
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• reduction in the size of the mandible in the anterior-posterior
dimension
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• the portion of the mandible anterior to the alveolar process is truncated
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• mutant mice exhibit a cleft palate with full penetrance but variable expressivity
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face
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limbs/digits/tail
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• mutant mice display a polydactyly phenotype that is intermediate in severity compared to single Alx4tm1Rwi mutant mice and double homozygous null mice
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• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype
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respiratory system
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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skeleton
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• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull
|
|
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• reduction in the size of the mandible in the anterior-posterior
dimension
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• the portion of the mandible anterior to the alveolar process is truncated
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype
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vision/eye
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• mutant mice are born with open eyes
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digestive/alimentary system
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• mutant mice exhibit a cleft palate with full penetrance but variable expressivity
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growth/size/body
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• mutant mice exhibit a cleft palate with full penetrance but variable expressivity
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face
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• at E19.5, mutant mice show severe abdominal wall defects and herniation of abdominal contents
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|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation
(0 available);
any
Alx1 mutation
(22 available)
Alx4tm1Rwi mutation
(0 available);
any
Alx4 mutation
(20 available)
|
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craniofacial
|
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• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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• mutant mice show a midline fusion defect that results in cleft face
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respiratory system
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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skeleton
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• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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nervous system
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• all double homozygous null mice display exencephaly
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growth/size/body
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• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
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• mutant mice show a midline fusion defect that results in cleft face
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Analysis Tools