All Phenotypes Alx1<tm1Crm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Alx1^tm1Crm/Alx1^tm1Crm	129S7/SvEvBrd-Alx1^tm1Crm	MGI:2167179
hm2	Alx1^tm1Crm/Alx1^tm1Crm	involves: 129S7/SvEvBrd	MGI:3769573
hm3	Alx1^tm1Crm/Alx1^tm1Crm	involves: 129S7/SvEvBrd * C57BL/6J	MGI:2659053
cx4	Alx1^tm1Crm/Alx1^tm1Crm Alx3^tm1Hubr/Alx3^tm1Hubr	involves: 129P2/OlaHsd * 129S7/SvEvBrd	MGI:3769582
cx5	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:2167174
cx6	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050576
cx7	Alx1^tm1Crm/Alx1⁺ Alx4^tm1Rwi/Alx4^tm1Rwi	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050580
cx8	Alx1^tm1Crm/Alx1^tm1Crm Alx4^tm1Rwi/Alx4⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3050585
cx9	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J Tbx15^de-H/Tbx15^de-H	involves: 129S7/SvEvBrd * C3H * C57BL/6J	MGI:3769578
cx10	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J Tbx15^de-H/Tbx15⁺	involves: 129S7/SvEvBrd * C3H * C57BL/6J	MGI:3769580
cx11	Alx1^tm1Crm/Alx1^tm1Crm Tbx15^de-H/Tbx15^de-H	involves: 129S7/SvEvBrd * C3H * C57BL/6JEi	MGI:3769579
cx12	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J	MGI:3769574

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

mortality/aging

neonatal lethality, complete penetrance ( J:33716 )

• all homozygotes die within 24 hours of birth

craniofacial

craniofacial phenotype ( J:51128 )

N	• homozygotes do NOT exhibit a cleft face

decreased cranium length ( J:33716 )

• the overall length of the mutant skull is shorter relative to wild-type

small frontal bone ( J:33716 )

• only a small portion of the frontal bone is present at its lateral basal level

absent interparietal bone ( J:33716 )

• the interparietal bone is entirely absent

small supraoccipital bone ( J:33716 )

• only remnants of the supraoccipital bone are present

small parietal bone ( J:33716 )

• only a small portion of the parietal bone is present at its lateral basal level

small alisphenoid bone ( J:33716 )

• only remnants of the alisphenoid bone are present

absent presphenoid bone ( J:33716 )

• the presphenoid bone at the base of the skull is absent

small temporal bone squamous part ( J:33716 )

• only remnants of the squamosal bone are present

absent neurocranium ( J:33716 )

• homozygotes display absence of the cranial vault

short mandible ( J:33716 )

short maxilla ( J:33716 )

abnormal palatine bone morphology ( J:33716 )

• only remnants of the palatine bone are present

short zygomatic bone ( J:33716 )

acrania ( J:33716 )

• all homozygotes display an acrania/meroanencephaly phenotype

• mutant pups delivered by caesarean section at E18.5 are alive with exposed and degenerating brain tissue, suggesting that lack of brain tissue is due to cannibalism by the mother

• folic acid treatment suppresses the development of the acrania/meroanencephaly phenotype but does not rescue the brain defects that compromise neonatal viability

abnormal nasal cartilage morphology ( J:33716 )

• the nasal cartilages are severely affected: the lamina cribrosa and turbinate cartilages are missing and the cartilaginous nasal capsule is misshapen

abnormal nasal capsule morphology ( J:33716 )

• the cartilaginous nasal capsule is misshapen

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:33716 )

N	• homozygotes display no defects in the cartilages and ossicles of the middle ear

skeleton

skeleton phenotype ( J:33716 )

N	• homozygotes display no obvious defects in the limbs, trunk bones or visceral organs

decreased cranium length ( J:33716 )

• the overall length of the mutant skull is shorter relative to wild-type

small frontal bone ( J:33716 )

• only a small portion of the frontal bone is present at its lateral basal level

absent interparietal bone ( J:33716 )

• the interparietal bone is entirely absent

small supraoccipital bone ( J:33716 )

• only remnants of the supraoccipital bone are present

small parietal bone ( J:33716 )

• only a small portion of the parietal bone is present at its lateral basal level

small alisphenoid bone ( J:33716 )

• only remnants of the alisphenoid bone are present

absent presphenoid bone ( J:33716 )

• the presphenoid bone at the base of the skull is absent

small temporal bone squamous part ( J:33716 )

• only remnants of the squamosal bone are present

absent neurocranium ( J:33716 )

• homozygotes display absence of the cranial vault

short mandible ( J:33716 )

short maxilla ( J:33716 )

abnormal palatine bone morphology ( J:33716 )

• only remnants of the palatine bone are present

short zygomatic bone ( J:33716 )

acrania ( J:33716 )

• all homozygotes display an acrania/meroanencephaly phenotype

• mutant pups delivered by caesarean section at E18.5 are alive with exposed and degenerating brain tissue, suggesting that lack of brain tissue is due to cannibalism by the mother

• folic acid treatment suppresses the development of the acrania/meroanencephaly phenotype but does not rescue the brain defects that compromise neonatal viability

abnormal nasal cartilage morphology ( J:33716 )

• the nasal cartilages are severely affected: the lamina cribrosa and turbinate cartilages are missing and the cartilaginous nasal capsule is misshapen

abnormal nasal capsule morphology ( J:33716 )

• the cartilaginous nasal capsule is misshapen

nervous system

open neural tube ( J:33716 )

• at E9.5, the neural tube in the entire forebrain region is closed; in contrast, the neural tube in the midbrain region is wide open from the forebrain/midbrain boundary and appears everted

• from E10.5 to E15.0, the neuroepithelium in the midbrain region proliferates and the forming brain tissue remains exposed

• at later stages, the malformed brain tissues begin to degenerate leading to anencephaly

abnormal forebrain morphology ( J:33716 )

• at E9.0, homozygotes display loss of forebrain mesenchyme cells due to apoptosis; as a result, forebrain neural tube closure is initially blocked

• at E9.5, the forebrain becomes repopulated with mesenchymal cells; however, initiation of neural tube closure at the forebrain/midbrain boundary never occurs

meroanencephaly ( J:33716 )

• all homozygotes display meroanencephaly

respiratory system

abnormal nasal cartilage morphology ( J:33716 )

• the nasal cartilages are severely affected: the lamina cribrosa and turbinate cartilages are missing and the cartilaginous nasal capsule is misshapen

abnormal nasal capsule morphology ( J:33716 )

• the cartilaginous nasal capsule is misshapen

embryo

open neural tube ( J:33716 )

• at E9.5, the neural tube in the entire forebrain region is closed; in contrast, the neural tube in the midbrain region is wide open from the forebrain/midbrain boundary and appears everted

• from E10.5 to E15.0, the neuroepithelium in the midbrain region proliferates and the forming brain tissue remains exposed

• at later stages, the malformed brain tissues begin to degenerate leading to anencephaly

growth/size/body

abnormal nasal cartilage morphology ( J:33716 )

• the nasal cartilages are severely affected: the lamina cribrosa and turbinate cartilages are missing and the cartilaginous nasal capsule is misshapen

abnormal nasal capsule morphology ( J:33716 )

• the cartilaginous nasal capsule is misshapen

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

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

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

skeleton

abnormal pectoral girdle bone morphology ( J:101708 )

• slight reduction of the anterior shoulder blade

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:33716 )

• all homozygotes die within 24 hours of birth

behavior/neurological

absent gastric milk in neonates ( J:33716 )

• neonates contain no milk in their stomachs

craniofacial

acrania ( J:33716 )

• ~65% of homozygotes develop an acrania/meroanencephaly phenotype

• ~35% have fully formed heads

short face ( J:33716 )

• all homozygotes born with closed neural tubes have shortened faces

shortened head ( J:33716 )

• at E9.5, the mutant head has a "pinched" shape and appears hypoplastic relative to wild-type

• the frontal/midfacial regions are shorter, and the contour of the heads is not as smoothly rounded as in wild-type

homeostasis/metabolism

cyanosis ( J:33716 )

• prior to death, homozygotes show a gasping behavior and become cyanotic

skeleton

acrania ( J:33716 )

• ~65% of homozygotes develop an acrania/meroanencephaly phenotype

• ~35% have fully formed heads

vision/eye

eyelids open at birth ( J:33716 )

• most homozygotes born with closed neural tubes have open eyes

nervous system

increased embryonic neuroepithelium thickness ( J:33716 )

• in mutant embryos, the neural epithelium is thickened and protrudes ectopically

open neural tube ( J:33716 )

• at E9.5, about 30% of homozygous mutant embryos have a closed neural tube

• also, about one-third of mutant neonates are born with closed neural tubes; however, these also die shortly after birth

meroanencephaly ( J:33716 )

• ~65% of homozygotes display meroanencephaly

embryo

increased embryonic neuroepithelium thickness ( J:33716 )

• in mutant embryos, the neural epithelium is thickened and protrudes ectopically

open neural tube ( J:33716 )

• at E9.5, about 30% of homozygous mutant embryos have a closed neural tube

• also, about one-third of mutant neonates are born with closed neural tubes; however, these also die shortly after birth

growth/size/body

short face ( J:33716 )

• all homozygotes born with closed neural tubes have shortened faces

shortened head ( J:33716 )

• at E9.5, the mutant head has a "pinched" shape and appears hypoplastic relative to wild-type

• the frontal/midfacial regions are shorter, and the contour of the heads is not as smoothly rounded as in wild-type

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx3^tm1Hubr/Alx3^tm1Hubr
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1^tm1Crm mutation (0 available); any Alx1 mutation (22 available)
Alx3^tm1Hubr mutation (0 available); any Alx3 mutation (14 available)

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

skeleton

abnormal scapula morphology ( J:101708 )

• reduction of the anterior part of the scapular blade

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 (20 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

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J Tbx15^de-H/Tbx15^de-H
Genetic Background	involves: 129S7/SvEvBrd * C3H * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1^tm1Crm mutation (0 available); any Alx1 mutation (22 available)
Alx4^lst-J mutation (1 available); any Alx4 mutation (20 available)
Tbx15^de-H mutation (1 available); any Tbx15 mutation (46 available)

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

skeleton

absent clavicle ( J:101708 )

small scapula ( J:101708 )

• severe reduction of the scapular blade at E16.5; the only remnants of the scapula are the glenoid fossa, a small fraction of the acromion, and the posterior part of the blade

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J Tbx15^de-H/Tbx15⁺
Genetic Background	involves: 129S7/SvEvBrd * C3H * C57BL/6J

Find Mice

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

skeleton

abnormal scapula morphology ( J:101708 )

• scapular blade is more severely malformed than in double Alx4 and Alx1 mutants

abnormal scapular spine morphology ( J:101708 )

• spine is more reduced than in double Alx4 and Alx1 mutants

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Tbx15^de-H/Tbx15^de-H
Genetic Background	involves: 129S7/SvEvBrd * C3H * C57BL/6JEi

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alx1^tm1Crm mutation (0 available); any Alx1 mutation (22 available)
Tbx15^de-H mutation (1 available); any Tbx15 mutation (46 available)

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

skeleton

scapular bone foramen ( J:101708 )

• scapula foramen which is larger than in single Tbx15 homozygotes

Allelic Composition	Alx1^tm1Crm/Alx1^tm1Crm Alx4^lst-J/Alx4^lst-J
Genetic Background	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J

Find Mice

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

skeleton

abnormal clavicle morphology ( J:101708 )

• clavicle is truncated

abnormal scapula morphology ( J:101708 )

• scapular blade rostral from the spine is absent

small acromion ( J:101708 )

• acromion is shortened

abnormal scapular spine morphology ( J:101708 )

• spine is shortened

small pubis ( J:101708 )

• pubic bone is more severely reduced than in single mutants

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