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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Alx4tm1Rwi
targeted mutation 1, Ronald Wisdom
MGI:1857484
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Alx4tm1Rwi/Alx4tm1Rwi involves: 129S6/SvEvTac MGI:2167173
hm2
Alx4tm1Rwi/Alx4tm1Rwi involves: 129S6/SvEvTac * C57BL/6J MGI:2183235
ht3
Alx4tm1Rwi/Alx4+ involves: 129S6/SvEvTac MGI:3050639
ht4
Alx4tm1Rwi/Alx4+ involves: 129S6/SvEvTac * C57BL/6J MGI:3050643
cx5
Alx4tm1Rwi/Alx4+
Bmp4tm1Blh/Bmp4+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:2166749
cx6
Alx1tm1Crm/Alx1tm1Crm
Alx4tm1Rwi/Alx4tm1Rwi
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:2167174
cx7
Alx1tm1Crm/Alx1+
Alx4tm1Rwi/Alx4+
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3050576
cx8
Alx1tm1Crm/Alx1+
Alx4tm1Rwi/Alx4tm1Rwi
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3050580
cx9
Alx1tm1Crm/Alx1tm1Crm
Alx4tm1Rwi/Alx4+
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3050585


Genotype
MGI:2167173
hm1
Allelic
Composition
Alx4tm1Rwi/Alx4tm1Rwi
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

craniofacial
• 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

limbs/digits/tail
• polydactyly is associated with the formation of an ectopic anterior zone of polarizing activity (ZPA)
• 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

skeleton
• 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

growth/size/body
• >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

embryo
• polydactyly is associated with the formation of an ectopic anterior zone of polarizing activity (ZPA)




Genotype
MGI:2183235
hm2
Allelic
Composition
Alx4tm1Rwi/Alx4tm1Rwi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

craniofacial
• 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

skeleton
• 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

growth/size/body
• >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




Genotype
MGI:3050639
ht3
Allelic
Composition
Alx4tm1Rwi/Alx4+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• heterozygotes are apparently normal and do NOT display polydactyly




Genotype
MGI:3050643
ht4
Allelic
Composition
Alx4tm1Rwi/Alx4+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• notably, heterozygous F1 progeny of a 129/Sv x C57BL/6J mating display hindlimb polydactyly




Genotype
MGI:2166749
cx5
Allelic
Composition
Alx4tm1Rwi/Alx4+
Bmp4tm1Blh/Bmp4+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• 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




Genotype
MGI:2167174
cx6
Allelic
Composition
Alx1tm1Crm/Alx1tm1Crm
Alx4tm1Rwi/Alx4tm1Rwi
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation (0 available); any Alx1 mutation (5 available)
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• double homozygous mutants show a midline fusion defect that results in cleft face

limbs/digits/tail
• double homozygous mutants have an increased number of digits (usually 7 on the hindlimb, and 6 or 7 on the forelimb) with variable expressivity
• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity
• in contrast, single mutant mice never display hemimelia

skeleton
• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity
• in contrast, single mutant mice never display hemimelia
• double homozygous mutants exhibit a unique sternal phenotype not present in either single mutant: all homozygotes have a split sternum
• double homozygotes show abnormal rib insertions
• some double homozygotes display a reduction in the number of ribs attached to the sternum

nervous system
• all double homozygous mutants display exencephaly

growth/size/body
• double homozygous mutants show a midline fusion defect that results in cleft face
• at E19.5, double homozygous mutants show severe abdominal wall defects and herniation of abdominal contents




Genotype
MGI:3050576
cx7
Allelic
Composition
Alx1tm1Crm/Alx1+
Alx4tm1Rwi/Alx4+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation (0 available); any Alx1 mutation (5 available)
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• double heterozygotes appear phenotypically normal




Genotype
MGI:3050580
cx8
Allelic
Composition
Alx1tm1Crm/Alx1+
Alx4tm1Rwi/Alx4tm1Rwi
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation (0 available); any Alx1 mutation (5 available)
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull
• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars
• mutant mice exhibit a cleft palate with full penetrance but variable expressivity
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face

limbs/digits/tail
• mutant mice display a polydactyly phenotype that is intermediate in severity compared to single Alx4tm1Rwi mutant mice and double homozygous null mice
• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype

respiratory system
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum

skeleton
• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull
• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars
• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype

vision/eye
• mutant mice are born with open eyes

digestive/alimentary system
• mutant mice exhibit a cleft palate with full penetrance but variable expressivity

growth/size/body
• mutant mice exhibit a cleft palate with full penetrance but variable expressivity
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face
• at E19.5, mutant mice show severe abdominal wall defects and herniation of abdominal contents




Genotype
MGI:3050585
cx9
Allelic
Composition
Alx1tm1Crm/Alx1tm1Crm
Alx4tm1Rwi/Alx4+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1tm1Crm mutation (0 available); any Alx1 mutation (5 available)
Alx4tm1Rwi mutation (0 available); any Alx4 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
• mutant mice show a midline fusion defect that results in cleft face

respiratory system
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum

skeleton
• mandibular reduction is mainly restricted to the region anterior to the alveolar process that surrounds the molars

nervous system
• all double homozygous null mice display exencephaly

growth/size/body
• mutants that carry three mutant alleles in any combination show cleft face associated with failure to fuse the cartilages of the nasal septum
• mutant mice show a midline fusion defect that results in cleft face





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory