Phenotypes Associated with This Genotype

Genotype
MGI:3043955

• Allelic Composition: Aldh1a3^tm1.1Pcn/Aldh1a3^tm1.1Pcn
• Genetic Background: involves: 129/Sv * C57BL/6

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

Aldh1a3^tm1.1Pcn/Aldh1a3^tm1.1Pcn mice develop ocular and nasal defects

cellular

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 reduced apoptosis is seen in a ventral cluster of cells in the periocular mesenchyme

mortality/aging

neonatal lethality, complete penetrance ( J:90261 )

• although normal at birth, homozygotes become cyanotic and die of respirtory distress by 10 hours after birth

digestive/alimentary system

persistent nasal fins ( J:90261 )

• nasal fins failed to cleave causing choanal atresia

homeostasis/metabolism

cyanosis ( J:90261 )

respiratory system

ethmoturbinate hypoplasia ( J:90261 )

• hypoplasia of the ethmoturbinates

choanal atresia ( J:90261 )

• choanal atresia, lack of communication between nasal and oral cavities

• homozygotes unable to breathe through their mouth

abnormal nasal cavity morphology ( J:90261 )

• nasal cavities are narrower than normal at E11.5

absent maxillary sinus ( J:90261 )

• maxillary sinus is absent

respiratory distress ( J:90261 )

• homozygotes become cyanotic and die of respiratory distress within 10 hours of birth

vision/eye

abnormal periocular mesenchyme morphology ( J:102847 )

• at E12.5 thickening of the ventral periocular mesenchyme is seen

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 reduced apoptosis is seen in a ventral cluster of cells in the periocular mesenchyme

ventral rotation of lens ( J:90261 )

• rotation of the lens associated with shortening of the ventral retina

persistent hyperplastic primary vitreous ( J:90261 )

• persistence of the primary vitreous body

absent nasolacrimal duct ( J:90261 )

• absence of nasolacrimal duct due to failure of the nasolacrimal grooves to close

decreased ventral retina size ( J:90261 )

• shortened ventral retina

endocrine/exocrine glands

absent Harderian gland ( J:90261 )

• agenesis of the Harderian gland by E18.5

craniofacial

ethmoturbinate hypoplasia ( J:90261 )

• hypoplasia of the ethmoturbinates

persistent nasal fins ( J:90261 )

• nasal fins failed to cleave causing choanal atresia

choanal atresia ( J:90261 )

• choanal atresia, lack of communication between nasal and oral cavities

• homozygotes unable to breathe through their mouth

abnormal nasal cavity morphology ( J:90261 )

• nasal cavities are narrower than normal at E11.5

absent maxillary sinus ( J:90261 )

• maxillary sinus is absent

skeleton

ethmoturbinate hypoplasia ( J:90261 )

• hypoplasia of the ethmoturbinates

embryo

abnormal periocular mesenchyme morphology ( J:102847 )

• at E12.5 thickening of the ventral periocular mesenchyme is seen

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 reduced apoptosis is seen in a ventral cluster of cells in the periocular mesenchyme

growth/size/body

ethmoturbinate hypoplasia ( J:90261 )

• hypoplasia of the ethmoturbinates

persistent nasal fins ( J:90261 )

• nasal fins failed to cleave causing choanal atresia

choanal atresia ( J:90261 )

• choanal atresia, lack of communication between nasal and oral cavities

• homozygotes unable to breathe through their mouth

abnormal nasal cavity morphology ( J:90261 )

• nasal cavities are narrower than normal at E11.5

absent maxillary sinus ( J:90261 )

• maxillary sinus is absent

abnormal periocular mesenchyme morphology ( J:102847 )

• at E12.5 thickening of the ventral periocular mesenchyme is seen

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 reduced apoptosis is seen in a ventral cluster of cells in the periocular mesenchyme