Phenotypes Associated with This Genotype

Genotype
MGI:3822781

• Allelic Composition: Hesx1^tm3Jpmb/Hesx1^tm3Jpmb
• Genetic Background: involves: 129S/SvEv * C57BL/6J * FVB/N

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:142649 )

• at weaning, less than 5% of animals are homozygous mutants instead of expected 25%

vision/eye

microphthalmia ( J:142649 )

• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia

anophthalmia ( J:142649 )

• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:142649 )

• pituitary defects are fully penetrant

abnormal adenohypophysis morphology ( J:142649 )

• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity

• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals

abnormal Rathke's pouch development ( J:142649 )

• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded

• this is the type II phenotype, always associated with a lack of anterior forebrain tissue

ectopic adenohypophysis ( J:142649 )

• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx

ectopic pituitary gland ( J:142649 )

• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location

nervous system

abnormal dorsal telencephalic commissure morphology ( J:142649 )

• embryos at 17.5 dpc and surviving adult mutants exhibit abnormal development of telencephalic commissural tracts

abnormal anterior commissure morphology ( J:142649 )

• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)

absent anterior commissure ( J:142649 )

abnormal forebrain morphology ( J:142649 )

• forebrain defects are observed

abnormal pituitary gland morphology ( J:142649 )

• pituitary defects are fully penetrant

abnormal adenohypophysis morphology ( J:142649 )

• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity

• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals

abnormal Rathke's pouch development ( J:142649 )

• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded

• this is the type II phenotype, always associated with a lack of anterior forebrain tissue

ectopic adenohypophysis ( J:142649 )

• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx

ectopic pituitary gland ( J:142649 )

• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location

decreased forebrain size ( J:142649 )

• reduced anterior forebrain tissue is found associated with Rathke's pouch abnormalities

abnormal telencephalon morphology ( J:142649 )

• significant reduction in telencephalic tissue is detected in severely affected embryos

small embryonic telencephalon ( J:142649 )

• telencephalic vesicles are normal in some embryos but are reduced in other embryos

abnormal corpus callosum morphology ( J:142649 )

• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)

craniofacial

abnormal frontonasal prominence morphology ( J:142649 )

• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc

absent frontonasal prominence ( J:142649 )

• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
septooptic dysplasia		DOID:0060857	OMIM:182230	J:142649