Phenotypes associated with this allele

• Allele Symbol: Aldh1a3^tm1.1Pcn
• Allele Name: targeted mutation 1.1, Pierre Chambon
• Allele ID: MGI:3043947
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aldh1a3^tm1.1Pcn/Aldh1a3^tm1.1Pcn	involves: 129/Sv * C57BL/6	MGI:3043955
cx2	Aldh1a1^tm1.1Ngb/Aldh1a1^tm1.1Ngb Aldh1a3^tm1.1Pcn/Aldh1a3^tm1.1Pcn	involves: 129/Sv * C57BL/6 * SJL	MGI:3620539

Genotype
MGI:3043955

hm1

• 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

Genotype
MGI:3620539

cx2

• Allelic Composition: Aldh1a1^tm1.1Ngb/Aldh1a1^tm1.1Ngb; Aldh1a3^tm1.1Pcn/Aldh1a3^tm1.1Pcn
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

cellular

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

• apoptosis is not impaired in other areas of the eye

mortality/aging

neonatal lethality, complete penetrance ( J:102847 )

• newborns die of respiratory distress similar to Aldh1a3^tm1.1Pcn homozygotes

vision/eye

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

• apoptosis is not impaired in other areas of the eye

absent iris stroma ( J:102847 )

• agenesis of the iris stroma at E18.5

abnormal conjunctival sac morphology ( J:102847 )

• at E14.5 the lower eyelid fold fuses with the presumptive corneal ectoderm to form a small, abnormal conjunctival sac

abnormal corneal stroma development ( J:102847 )

• agenesis of the corneal stroma at E18.5

ventral rotation of lens ( J:102847 )

• ventral rotation of the lens that is more severe than in Aldh1a3^tm1.1Pcn homozygotes

abnormal eyelid development ( J:102847 )

• at E11.5, the dorsal eyelid groove fails to invaginate while the ventral groove forms but only yields a rudimentary lower eyelid fold

• at E14.5 the lower eyelid fold fuses with the presumptive corneal ectoderm to form a small, abnormal conjunctival sac

• at E14.5 an abnormal thick layer of mesenchyme replaces the eyelids and cornea

persistent hyperplastic primary vitreous ( J:102847 )

• retrolenticular membrane resulting from the persistence and hyperplasia of the primary vitreous body

decreased ventral retina size ( J:102847 )

• shortening of the ventral retina that is more severe than in Aldh1a3^tm1.1Pcn homozygotes

• however, dorsoventral patterning of the retina is normal

absent sclera ( J:102847 )

• absence of the sclera at E18.5

respiratory system

abnormal nose morphology ( J:102847 )

• nasal defects are similar to those in Aldh1a3^tm1.1Pcn homozygotes

respiratory distress ( J:102847 )

endocrine/exocrine glands

absent Harderian gland ( J:102847 )

• agenesis of the Harderian gland at E18.5

craniofacial

abnormal nose morphology ( J:102847 )

• nasal defects are similar to those in Aldh1a3^tm1.1Pcn homozygotes

embryo

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

• apoptosis is not impaired in other areas of the eye

growth/size/body

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

• apoptosis is not impaired in other areas of the eye

abnormal nose morphology ( J:102847 )

• nasal defects are similar to those in Aldh1a3^tm1.1Pcn homozygotes