Phenotypes associated with this allele

• Allele Symbol: Rfx4^m269Asp
• Allele Name: mutation 269, Andrew S Peterson
• Allele ID: MGI:3799278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rfx4^m269Asp/Rfx4^m269Asp	involves: C57BL/6J * FVB/NJ	MGI:5431096
cx2	Rfx4^m269Asp/Rfx4^m269Asp Tg(Rr291-lacZ)#Mekk/0	involves: C57BL/6J * FVB/N	MGI:3802502

Genotype
MGI:5431096

hm1

• Allelic Composition: Rfx4^m269Asp/Rfx4^m269Asp
• Genetic Background: involves: C57BL/6J * FVB/NJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:186055 )

nervous system

abnormal brain ependyma motile cilium morphology ( J:186055 )

• at E10.25 primary cilia on the ventricular surface of the telencephalon are stubby, misshapen or both

• cilia commonly have a bulbous region mid-length or at the tip, with a contrastingly thin tip or thin base

abnormal floor plate morphology ( J:186055 )

• ventral displacement of the neural progenitor domain and motor neurons

small floor plate ( J:186055 )

• nearly complete loss of the floor plate in the ventral spinal cord from E9.5 onwards

abnormal telencephalon morphology ( J:186055 )

• severely affected mice show dorsal midline defects

• expression analysis indicates a partially ventralized phenotype

abnormal hindbrain morphology ( J:186055 )

• severely affected mice show marked invagination of the dorsal hindbrain region due to loss of the rhombencephalic roof

abnormal spinal cord morphology ( J:186055 )

• characteristic tight boundaries between neuronal domains of the spinal cord are lost, with stray motor neurons intermingled with adjacent dorsal and ventral interneuron domains

abnormal spinal cord motile cilium morphology ( J:186055 )

• at E9.0 primary cilia on the ventricular surface of the floor plate are misshapen, primarily circular stubs

abnormal motor neuron morphology ( J:186055 )

• in the developing spinal cord motor neurons occupy a much broader dorsoventral region

embryo

abnormal floor plate morphology ( J:186055 )

• ventral displacement of the neural progenitor domain and motor neurons

small floor plate ( J:186055 )

• nearly complete loss of the floor plate in the ventral spinal cord from E9.5 onwards

cellular

abnormal brain ependyma motile cilium morphology ( J:186055 )

• at E10.25 primary cilia on the ventricular surface of the telencephalon are stubby, misshapen or both

• cilia commonly have a bulbous region mid-length or at the tip, with a contrastingly thin tip or thin base

abnormal spinal cord motile cilium morphology ( J:186055 )

• at E9.0 primary cilia on the ventricular surface of the floor plate are misshapen, primarily circular stubs

Genotype
MGI:3802502

cx2

• Allelic Composition: Rfx4^m269Asp/Rfx4^m269Asp; Tg(Rr291-lacZ)#Mekk/0
• Genetic Background: involves: C57BL/6J * FVB/N

nervous system

abnormal cerebral cortex morphology ( J:136795 )

• mice exhibit defect in dorsal midline of the cortex morphology

• dorsal midline structures are lost in the mutant