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Phenotypes Associated with This Genotype
Genotype
MGI:2451320
Allelic
Composition
Aldh1a2tm1Dll/Aldh1a2tm1Ipc
Genetic
Background
involves: CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aldh1a2tm1Dll mutation (0 available); any Aldh1a2 mutation (2 available)
Aldh1a2tm1Ipc mutation (0 available); any Aldh1a2 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Outflow tract septation defects and abnormal patterns of aortic arch-derived arteries in Aldh1a2tm1Dll/Aldh1a2tm1Dll and Aldh1a2tm1Dll/Aldh1a2tm1Ipc mice

mortality/aging
• all mutants die before the age of 2 weeks
• however, compound heterozygotes are obtained at the expected Mendelian ratios at E9.5-E12.5 and E13.5-E14.5

cardiovascular system
• at E18.5 or P1, all mutant embryos show abnormal patterns of the aortic arch and/or head and neck great arteries
• at E11.5, a single, enlarged vessel caudal to the third arches is observed instead of the distinct fourth and sixth aortic arches observed in wild-type embryos
• at E9.5, no third aortic arches are formed; however, third aortic arches are detectable at E10.5
• in mutants, the right subclavian artery (RSA) originates ectopically from the descending aorta
• at E18.5 or P1, two of 7 mutants show a right-sided aortic arch, one with a double arch
• at E18.5 or P1, one of 7 mutants shows a double aortic arch
• at E18.5 or P1, most mutants lack, or have shorter, common carotid arteries, their internal and external carotids arising from the aortic arch, the innominate artery, or at midtracheal (instead of upper cervical) level
• in mutants, the left subclavian artery (LSA) and left carotid arteries arise from a common trunk or innominate artery
• at E14.5, two of 7 mutant embryos exhibit poorly developed conotruncal wedges
• at E14.5, five of 7 mutant embryos display a completely unseptated outflow tract (PTA)
• at E14.5, all mutant embryos exhibit a ventricular septal defect

embryo
• at E11.5, a single, enlarged vessel caudal to the third arches is observed instead of the distinct fourth and sixth aortic arches observed in wild-type embryos
• at E9.5, no third aortic arches are formed; however, third aortic arches are detectable at E10.5
• at E9.5, mutant embryos show abnormal NCC patterning caudally to the second branchial arch; instead of forming separate streams colonizing the third and fourth to sixth arches, NCCs are arranged in a single mass which is poorly connected with the hindbrain
• in contrast, the migratory pathways of more rostral NCC populations (i.e. toward branchial arches 1 and 2) appear normal
• at E9.5, mutant embryos show an apparent lack of third branchial arches
• at E9.5, mutants exhibit significant hypoplasia of the putative third and fourth to sixth arches, despite the presence of identifiable ectodermal clefts
• in addition, abnormal fusion of the second and third epibranchial placodes is noted at E9.5
• at E9.5, the second pharyngeal pouch is properly formed; however, no signs of distinct third or fourth pharyngeal pouches are observed

respiratory system
• at E18.5, mutants display highly abnormal laryngeal cartilages
• at E18.5, the posterior aspect of cricoid cartilage is abnormally segmented into ring-like structures
• at E18.5, an ectopic cartilage connects the hyoid bone and thyroid cartilage
• at E18.5, mutants display highly abnormal, reduced tracheal rings
• at E18.5, mutants display a short trachea

immune system
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus

endocrine/exocrine glands
• at P1, mutants show absence of parathyroid glands, despite a well-formed thyroid gland
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus

nervous system
• at E9.5, mutant embryos display defective cranial nerve developmental in the postotic branchial region
• at E11.5, mutant embryos display abnormal fusion of cranial nerves IX (glosso-pharyngeal) and X (vagus) in a single bundle and failure to form separate distal ganglia

growth/size/body
• at E18.5 or P1, most mutants are slightly smaller but overtly normal relative to wild-type mice

homeostasis/metabolism
• at E18.5 or P1, mutant embryos are alive but develop signs of cyanosis and suffocation within a few hours

craniofacial
• at E11.5, a single, enlarged vessel caudal to the third arches is observed instead of the distinct fourth and sixth aortic arches observed in wild-type embryos
• at E9.5, no third aortic arches are formed; however, third aortic arches are detectable at E10.5
• at E9.5, mutant embryos show an apparent lack of third branchial arches
• at E9.5, mutants exhibit significant hypoplasia of the putative third and fourth to sixth arches, despite the presence of identifiable ectodermal clefts
• in addition, abnormal fusion of the second and third epibranchial placodes is noted at E9.5

skeleton
• at E18.5, mutants display highly abnormal laryngeal cartilages
• at E18.5, the posterior aspect of cricoid cartilage is abnormally segmented into ring-like structures
• at E18.5, an ectopic cartilage connects the hyoid bone and thyroid cartilage
• at E18.5, mutants display highly abnormal, reduced tracheal rings

hematopoietic system
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus
• at E18.5, nine of 10 mutants exhibit display aplasia or significant hypoplasia of the thymus

cellular
• at E9.5, mutant embryos show abnormal NCC patterning caudally to the second branchial arch; instead of forming separate streams colonizing the third and fourth to sixth arches, NCCs are arranged in a single mass which is poorly connected with the hindbrain
• in contrast, the migratory pathways of more rostral NCC populations (i.e. toward branchial arches 1 and 2) appear normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:81969


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory