Phenotypes Associated with This Genotype

Genotype
MGI:7367584

• Allelic Composition: Rr115^em1Bobh/Rr115⁺; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

craniofacial

basisphenoid bone hypoplasia ( J:306254 )

• reduced in size or absent in E17.5 embryos

abnormal pterygoid bone morphology ( J:306254 )

• in E17.5 embryos

abnormal maxilla morphology ( J:306254 )

• in E17.5 embryos

vomer bone hypoplasia ( J:306254 )

• excessively fused or absent in E17.5 embryos

abnormal nasal cavity morphology ( J:306254 )

• reduced length in E17.5 embryos

round head ( J:306254 )

• in E17.5 embryos

endocrine/exocrine glands

abnormal magnocellular neurosecretory cell morphology ( J:306254 )

• absent oxytocin and vasopressin expressing cells in paraventricular nucleus (PVN) in E15.5 embryos

abnormal parvocellular neurosecretory cell morphology ( J:306254 )

• absent oxytocin, tyrosine hydroxylase (TH1) and vasopressin expressing cells in paraventricular nucleus (PVN) in E15.5 embryos

abnormal adenohypophysis development ( J:306254 )

• mislocated in E17.5 embryos, intercepting the basisphenoid bone

abnormal Rathke's pouch development ( J:306254 )

• shifted ventrally in E11.5 embryos

• severely malformed in E13.5 embryos

abnormal neurohypophysis development ( J:306254 )

• less separation of infundibulum from neuroectodermal tissue in E13.5 embryos

• undergoing apoptosis in E17.5 embryos

ectopic neurohypophysis ( J:306254 )

• infundibulum shifted ventrally in E11.5 embryos, remaining ectopic in E15.5 embryos

growth/size/body

abnormal nasal cavity morphology ( J:306254 )

• reduced length in E17.5 embryos

round head ( J:306254 )

• in E17.5 embryos

mortality/aging

perinatal lethality, complete penetrance ( J:306254 )

• expected Mendelian ratios at stage E17.5

• premature death by age P4

nervous system

abnormal adenohypophysis development ( J:306254 )

• mislocated in E17.5 embryos, intercepting the basisphenoid bone

abnormal Rathke's pouch development ( J:306254 )

• shifted ventrally in E11.5 embryos

• severely malformed in E13.5 embryos

abnormal neurohypophysis development ( J:306254 )

• less separation of infundibulum from neuroectodermal tissue in E13.5 embryos

• undergoing apoptosis in E17.5 embryos

ectopic neurohypophysis ( J:306254 )

• infundibulum shifted ventrally in E11.5 embryos, remaining ectopic in E15.5 embryos

abnormal hypothalamus morphology ( J:306254 )

• midline hypothalamic brain tissue absent in E17.5 embryos

abnormal magnocellular neurosecretory cell morphology ( J:306254 )

• absent oxytocin and vasopressin expressing cells in paraventricular nucleus (PVN) in E15.5 embryos

abnormal parvocellular neurosecretory cell morphology ( J:306254 )

• absent oxytocin, tyrosine hydroxylase (TH1) and vasopressin expressing cells in paraventricular nucleus (PVN) in E15.5 embryos

respiratory system

abnormal nasal cavity morphology ( J:306254 )

• reduced length in E17.5 embryos

skeleton

basisphenoid bone hypoplasia ( J:306254 )

• reduced in size or absent in E17.5 embryos

abnormal pterygoid bone morphology ( J:306254 )

• in E17.5 embryos

abnormal maxilla morphology ( J:306254 )

• in E17.5 embryos

vomer bone hypoplasia ( J:306254 )

• excessively fused or absent in E17.5 embryos