Renpenning syndrome has 2 phenotype(s)

Images

Sources

Experiment + Assay

Phenotypes

Human Diseases

Fig.3.D

Iwasaki Y and Thomsen GH (2014)

Xla Wt + pqbp1 MO

NF19 (in situ hybridization)

Anatomical Phenotype
abnormal neural fold morphology decreased cell adhesion in neuroectoderm

Expression Phenotype
decreased amount snai2.L expression in neural crest decreased amount snai2.L expression in neural plate border decreased amount sox2.L expression in neural plate

Renpenning syndrome

Fig.3.C

Iwasaki Y and Thomsen GH (2014)

Xla Wt + pqbp1 MO

NF28 (in situ hybridization)

Anatomical Phenotype
decreased length of anterior-posterior axis decreased size of the head decreased size of the tail bud

Expression Phenotype
decreased amount ncam1.L expression in brain decreased amount ncam1.L expression in nervous system decreased amount ncam1.L expression in trunk neural crest

Renpenning syndrome