All Phenotypes Alx4<tm1Rwi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Alx4^tm1Rwi
targeted mutation 1, Ronald Wisdom
MGI:1857484

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac	MGI:2167173
hm2	Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac * C57BL/6J	MGI:2183235
ht3	Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac	MGI:3050639
ht4	Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac * C57BL/6J	MGI:3050643
cx5	Alx4^tm1Rwi/Alx4⁺ Bmp4^tm1Blh/Bmp4⁺	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6	MGI:2166749
cx6	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:2167174
cx7	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050576
cx8	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050580
cx9	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050585

Allelic Composition	Alx4^tm1Rwi/Alx4^tm1Rwi
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:43769 )

• >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

abnormal parietal bone morphology ( J:43769 )

• 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

abnormal zone of polarizing activity morphology ( J:43769 )

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

polydactyly ( J:43769 )

• 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

abnormal parietal bone morphology ( J:43769 )

• 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

herniated abdominal wall ( J:43769 )

• >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

abnormal zone of polarizing activity morphology ( J:43769 )

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

Allelic Composition	Alx4^tm1Rwi/Alx4^tm1Rwi
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:43769 )

• >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

abnormal parietal bone morphology ( J:43769 )

• 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

abnormal parietal bone morphology ( J:43769 )

• 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

herniated abdominal wall ( J:43769 )

• >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

Allelic Composition	Alx4^tm1Rwi/Alx4⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:43769 )

• heterozygotes are apparently normal and do NOT display polydactyly

Allelic Composition	Alx4^tm1Rwi/Alx4⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

polydactyly ( J:49152 )

• notably, heterozygous F1 progeny of a 129/Sv x C57BL/6J mating display hindlimb polydactyly

Allelic Composition	Alx4^tm1Rwi/Alx4⁺ Bmp4^tm1Blh/Bmp4⁺
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)
Bmp4^tm1Blh mutation (2 available); any Bmp4 mutation (23 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

polydactyly ( J:42445 )

• 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

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4^tm1Rwi
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1^tm1Crm mutation (0 available); any Alx1 mutation (22 available)
Alx4^tm1Rwi mutation (0 available); any Alx4 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

midline facial cleft ( J:51128 )

• double homozygous mutants show a midline fusion defect that results in cleft face

limbs/digits/tail

polydactyly ( J:51128 )

• double homozygous mutants have an increased number of digits (usually 7 on the hindlimb, and 6 or 7 on the forelimb) with variable expressivity

short tibia ( J:51128 )

• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity

• in contrast, single mutant mice never display hemimelia

skeleton

short tibia ( J:51128 )

• double homozygous mutants display tibial reduction (hemimelia) with variable expressivity

• in contrast, single mutant mice never display hemimelia

split sternum ( J:51128 )

• double homozygous mutants exhibit a unique sternal phenotype not present in either single mutant: all homozygotes have a split sternum

asymmetric rib joints ( J:51128 )

• double homozygotes show abnormal rib insertions

decreased rib number ( J:51128 )

• some double homozygotes display a reduction in the number of ribs attached to the sternum

nervous system

exencephaly ( J:51128 )

• all double homozygous mutants display exencephaly

growth/size/body

midline facial cleft ( J:51128 )

• double homozygous mutants show a midline fusion defect that results in cleft face

herniated abdominal wall ( J:51128 )

• at E19.5, double homozygous mutants show severe abdominal wall defects and herniation of abdominal contents

Allelic Composition	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4⁺
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:51128 )

• double heterozygotes appear phenotypically normal

Allelic Composition	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4^tm1Rwi
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal neurocranium morphology ( J:51128 )

• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull

abnormal basisphenoid bone morphology ( J:51128 )

small frontal bone ( J:51128 )

small occipital bone ( J:51128 )

small parietal bone ( J:51128 )

small temporal bone ( J:51128 )

small mandible ( J:51128 )

• reduction in the size of the mandible in the anterior-posterior dimension

short mandible ( J:51128 )

• the portion of the mandible anterior to the alveolar process is truncated

cleft palate ( J:51128 )

• mutant mice exhibit a cleft palate with full penetrance but variable expressivity

abnormal nasal septum cartilage morphology ( J:51128 )

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

midline facial cleft ( J:51128 )

• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face

limbs/digits/tail

polydactyly ( J:51128 )

• mutant mice display a polydactyly phenotype that is intermediate in severity compared to single Alx4^tm1Rwi mutant mice and double homozygous null mice

short tibia ( J:51128 )

• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype

respiratory system

abnormal nasal septum cartilage morphology ( J:51128 )

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

skeleton

abnormal neurocranium morphology ( J:51128 )

• mutant mice show a reduction in the size of the frontal, parietal, occipital and temporal plates of the skull

abnormal basisphenoid bone morphology ( J:51128 )

small frontal bone ( J:51128 )

small occipital bone ( J:51128 )

small parietal bone ( J:51128 )

small temporal bone ( J:51128 )

small mandible ( J:51128 )

• reduction in the size of the mandible in the anterior-posterior dimension

short mandible ( J:51128 )

• the portion of the mandible anterior to the alveolar process is truncated

abnormal nasal septum cartilage morphology ( J:51128 )

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

short tibia ( J:51128 )

• mutant mice display tibial reduction; however, hemimelia is less severe in comparison to the double mutant phenotype

vision/eye

eyelids open at birth ( J:51128 )

• mutant mice are born with open eyes

digestive/alimentary system

cleft palate ( J:51128 )

• mutant mice exhibit a cleft palate with full penetrance but variable expressivity

growth/size/body

cleft palate ( J:51128 )

• mutant mice exhibit a cleft palate with full penetrance but variable expressivity

abnormal nasal septum cartilage morphology ( J:51128 )

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

midline facial cleft ( J:51128 )

• mutant mice exhibit novel craniofacial defects including a midline fusion defect that results in cleft face

herniated abdominal wall ( J:51128 )

• at E19.5, mutant mice show severe abdominal wall defects and herniation of abdominal contents

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4⁺
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal basisphenoid bone morphology ( J:51128 )

short mandible ( J:51128 )

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

abnormal nasal septum cartilage morphology ( J:51128 )

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

midline facial cleft ( J:51128 )

• mutant mice show a midline fusion defect that results in cleft face

respiratory system

abnormal nasal septum cartilage morphology ( J:51128 )

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

skeleton

abnormal basisphenoid bone morphology ( J:51128 )

short mandible ( J:51128 )

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

abnormal nasal septum cartilage morphology ( J:51128 )

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

nervous system

exencephaly ( J:51128 )

• all double homozygous null mice display exencephaly

growth/size/body

abnormal nasal septum cartilage morphology ( J:51128 )

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

midline facial cleft ( J:51128 )

• mutant mice show a midline fusion defect that results in cleft face

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