Phenotypes associated with this allele

• Allele Symbol: Rfx4^{Tg(Myh6-CYP2J2)Tr5Dcz}
• Allele Name: transgene insertion Tr5, Darryl Zeldin
• Allele ID: MGI:3851404
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rfx4^Tg(Myh6-CYP2J2)Tr5Dcz/Rfx4^Tg(Myh6-CYP2J2)Tr5Dcz	involves: C57BL/6NTac	MGI:4353318
ht2	Rfx4^Tg(Myh6-CYP2J2)Tr5Dcz/Rfx4^+	involves: C57BL/6NTac	MGI:3851512

Genotype
MGI:4353318

hm1

• Allelic Composition: Rfx4^{Tg(Myh6-CYP2J2)Tr5Dcz}/Rfx4^{Tg(Myh6-CYP2J2)Tr5Dcz}
• Genetic Background: involves: C57BL/6NTac

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

mortality/aging

perinatal lethality, complete penetrance ( J:84751 )

• all of the homozygous pups born died within 1 hour of birth

• no excess intrauterine mortality was observed at E18

nervous system

abnormal brain development ( J:84751 )

• the brains of the homozygous mice at the time of birth and at E16.5 were grossly dysmorphic

• at E12.5, dorsal structures in the rostral brain were hypoplastic and lacked morphological differentiation of medial and paramedial dorsal structures resulting in abnormal head appearance externally

• principal telencephalic defects in homozygous mutants involved severe hypoplasia of the dorsal midline structures and adjacent cerebral cortex

abnormal basal ganglion morphology ( J:84751 )

• the size of the basal ganglia was disproportionately large compared with the cortex in mutant brain at E12.5

Genotype
MGI:3851512

ht2

• Allelic Composition: Rfx4^{Tg(Myh6-CYP2J2)Tr5Dcz}/Rfx4⁺
• Genetic Background: involves: C57BL/6NTac

mortality/aging

premature death ( J:84751 )

• a large percentage of mice exhibited head swelling followed by rapid neurological deterioration and death in young adulthood

• although many of the mice developed the severe form of the syndrome within the first 2 months of life, sufficient mice survived to propagate the line

• minimal if any prenatal loss of transgenic pups, despite the presence of congenital hydrocephalus

cardiovascular system

abnormal response to cardiac infarction ( J:101489 )

• significantly improved postischemic recovery of left ventricular function

• hearts are anatomically and functionally normal at baseline

homeostasis/metabolism

abnormal response to cardiac infarction ( J:101489 )

• significantly improved postischemic recovery of left ventricular function

• hearts are anatomically and functionally normal at baseline

nervous system

absent subcommissural organ ( J:84751 )

• absence of the subcommissural organ (SCO) in the transgenic mice at P0.5

• antibody label of Reissner's fibers was generally not detected in the anatomical region of subcommissural organ in the transgenic mice

• other midline structures, such as the pineal body and posterior commissure, were present and appeared to be anatomically normal

abnormal Reissner's fiber morphology ( J:84751 )

• antibody label of Reissner's fibers was generally not detected in the anatomical region of subcommissural organ in the transgenic mice

hydrocephaly ( J:84751 )

• the external swelling was apparent by the increased convexity of the head, and the lateral displacement of the ears

• severe hydrocephalus in the anterior brain, with extreme dilatation of the lateral ventricles but no apparent effect on the fourth ventricle

• at the time of birth (P0.5) severe hydrocephalus was present in all mice harboring the transgene

cerebral aqueductal stenosis ( J:84751 )

• severe hydrocephalus, with extreme lateral ventricle dilatation and the formation of false ventricles near the external capsule, as well as midline structural disruption by the extreme hydrocephalus

endocrine/exocrine glands

absent subcommissural organ ( J:84751 )

• absence of the subcommissural organ (SCO) in the transgenic mice at P0.5

• antibody label of Reissner's fibers was generally not detected in the anatomical region of subcommissural organ in the transgenic mice

• other midline structures, such as the pineal body and posterior commissure, were present and appeared to be anatomically normal