Phenotypes associated with this allele

• Allele Symbol: Slc25a32^{Gt(IST11480G10)Tigm}
• Allele Name: gene trap IST11480G10, Texas A&M Institute for Genomic Medicine
• Allele ID: MGI:4011881
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a32^Gt(IST11480G10)Tigm/Slc25a32^Gt(IST11480G10)Tigm	involves: C57BL/6N	MGI:6158642

Genotype
MGI:6158642

hm1

• Allelic Composition: Slc25a32^{Gt(IST11480G10)Tigm}/Slc25a32^{Gt(IST11480G10)Tigm}
• Genetic Background: involves: C57BL/6N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:261656 )

• initial heterozygote crosses failed to produce any viable homozygous mutant pups

• in utero calcium formate supplementation resulted in 78.1% of embryos completing NTC; however, no fetuses survived beyond E15.5

nervous system

abnormal neural tube closure ( J:261656 )

• at E10.5-E12.5, all embryos (60 out of 60 analyzed) failed to complete neural tube closure (NTC); 18 out of 60 embryos showed NTC defects from the forebrain to the midbrain, 7 embryos had open midbrain NTDs, 26 embryos showed an open neural tube extending from the midbrain to the hindbrain, and 9 embryos exhibited craniorachischisis

• maternal calcium formate supplementation of heterozygous dams partially rescued NTDs, with 78.1% of embryos completing NTC at E10-E15.5, while the remaining 21.9% fetuses displayed open NTDs

• maternal 5-methyltetrahydrofolate (5-mTHF) supplementation failed to prevent NTDs with no identifiable embryos completing NTC until E12.5

incomplete rostral neuropore closure ( J:261656 )

• all embryos showed open rostral NTDs at either E10.5 or E12.5

• H&E staining revealed that E11.5 embryos had unfused neural folds at the level of the forebrain and the midbrain, unlike wild-type and heterozygous controls

open neural tube ( J:261656 )

• at E10.5, a subset of embryos showed open neural tubes extending the length from the forebrain to the hindbrain, as well as craniofacial defects

craniorachischisis ( J:261656 )

• at E10.5, some embryos exhibited craniorachischisis, with an open neural tube extending from the forebrain to the cervical boundary

• at E10.5-E12.5, nine out of 60 embryos with NTDs showed craniorachischisis

exencephaly ( J:261656 )

• at E10.5, most embryos with neural tube defects (NTDs) exhibited exencephaly

• at E12.5, NTD-affected embryos primarily showed exencephaly

embryo

abnormal neural tube closure ( J:261656 )

• at E10.5-E12.5, all embryos (60 out of 60 analyzed) failed to complete neural tube closure (NTC); 18 out of 60 embryos showed NTC defects from the forebrain to the midbrain, 7 embryos had open midbrain NTDs, 26 embryos showed an open neural tube extending from the midbrain to the hindbrain, and 9 embryos exhibited craniorachischisis

• maternal calcium formate supplementation of heterozygous dams partially rescued NTDs, with 78.1% of embryos completing NTC at E10-E15.5, while the remaining 21.9% fetuses displayed open NTDs

• maternal 5-methyltetrahydrofolate (5-mTHF) supplementation failed to prevent NTDs with no identifiable embryos completing NTC until E12.5

incomplete rostral neuropore closure ( J:261656 )

• all embryos showed open rostral NTDs at either E10.5 or E12.5

• H&E staining revealed that E11.5 embryos had unfused neural folds at the level of the forebrain and the midbrain, unlike wild-type and heterozygous controls

open neural tube ( J:261656 )

• at E10.5, a subset of embryos showed open neural tubes extending the length from the forebrain to the hindbrain, as well as craniofacial defects

craniorachischisis ( J:261656 )

• at E10.5, some embryos exhibited craniorachischisis, with an open neural tube extending from the forebrain to the cervical boundary

• at E10.5-E12.5, nine out of 60 embryos with NTDs showed craniorachischisis

craniofacial

abnormal craniofacial morphology ( J:261656 )

• at E10.5, a subset of embryos showed open neural tubes extending the length from the forebrain to the hindbrain, as well as craniofacial defects