Phenotypes Associated with This Genotype

Genotype
MGI:2659053

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

• ♀: 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