Phenotypes associated with this allele

• Allele Symbol: Nosip^{Gt(OST138992)Lex}
• Allele Name: gene trap OST138992, Lexicon Genetics
• Allele ID: MGI:4201195
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nosip^Gt(OST138992)Lex/Nosip^Gt(OST138992)Lex	B6.129S5-Nosip^Gt(OST138992)Lex	MGI:6711274

Genotype
MGI:6711274

hm1

• Allelic Composition: Nosip^{Gt(OST138992)Lex}/Nosip^{Gt(OST138992)Lex}
• Genetic Background: B6.129S5-Nosip^{Gt(OST138992)Lex}

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

mortality/aging

perinatal lethality, complete penetrance ( J:245546 )

• perinatal lethality

• mice delivered by caesarean section at E18.5 are present at the expected Mendelian distribution but die shortly after birth with signs of respiratory distress and cyanosis

craniofacial

abnormal craniofacial morphology ( J:245546 )

• all fetuses exhibit craniofacial malformations, either complete cleft of the secondary palate or agenesis of facial structures including the snout and mouth

• 48.6% of embryos are mildly affected with craniofacial defects

• 28.6% of embryos are more severely affected with craniofacial defects

• 17.1% of embryos are the most severely affected with craniofacial defects

absent basisphenoid bone ( J:245546 )

• basisphenoid bone is absent in severely affected embryos

agnathia ( J:245546 )

• 2.8% of embryos exhibit agnathia

abnormal midface morphology ( J:245546 )

• midfacial structures ventral to the dilated lateral ventricle are missing in severely affected embryos, while the tongue, lower jaw, and lower lip are present

abnormal palate morphology ( J:245546 )

• palate is missing in severely affected embryos, while the tongue, lower jaw, and lower lip are present

cleft secondary palate ( J:245546 )

narrow snout ( J:245546 )

• mildly affected embryos exhibit a characteristic narrow snout shape in combination with complete cleft of the secondary palate

midline facial cleft ( J:245546 )

• severely affected embryos exhibit a more pronounced midfacial clefting with agenesis of midfacial structures

proboscis ( J:245546 )

• most severely affected embryos display proboscis (tube-like appendage representing the nose) or a single head-like protrusion devoid of any facial features

growth/size/body

abnormal midface morphology ( J:245546 )

• midfacial structures ventral to the dilated lateral ventricle are missing in severely affected embryos, while the tongue, lower jaw, and lower lip are present

abnormal palate morphology ( J:245546 )

• palate is missing in severely affected embryos, while the tongue, lower jaw, and lower lip are present

cleft secondary palate ( J:245546 )

narrow snout ( J:245546 )

• mildly affected embryos exhibit a characteristic narrow snout shape in combination with complete cleft of the secondary palate

midline facial cleft ( J:245546 )

• severely affected embryos exhibit a more pronounced midfacial clefting with agenesis of midfacial structures

proboscis ( J:245546 )

• most severely affected embryos display proboscis (tube-like appendage representing the nose) or a single head-like protrusion devoid of any facial features

decreased embryo weight ( J:245546 )

• weight is reduced at E13.5

decreased fetal weight ( J:245546 )

• weight is reduced at E18.5

embryo

decreased embryo weight ( J:245546 )

• weight is reduced at E13.5

digestive/alimentary system

abnormal palate morphology ( J:245546 )

• palate is missing in severely affected embryos, while the tongue, lower jaw, and lower lip are present

cleft secondary palate ( J:245546 )

homeostasis/metabolism

cyanosis ( J:245546 )

• mice delivered by caesarean section at E18.5 show cyanosis

nervous system

abnormal telencephalon development ( J:245546 )

• absent of incomplete cleavage of the forebrain resulting in a continuous telencephalic ventricle

holoprosencephaly ( J:245546 )

enlarged third ventricle ( J:245546 )

• severely affected embryos exhibit expansion of the third ventricle, associated with an increased volume of the lateral ventricle

dilated lateral ventricle ( J:245546 )

• severely affected embryos exhibit increased volume of the lateral ventricle

absent olfactory bulb ( J:245546 )

• hypoplastic or absent olfactory bulbs

olfactory bulb hypoplasia ( J:245546 )

• hypoplastic or absent olfactory bulbs

absent telencephalon ( J:245546 )

• 1.4% of embryos exhibit atelencephaly

abnormal lateral ganglionic eminence morphology ( J:245546 )

• hypoplasia of the lateral ganglionic eminences

abnormal medial ganglionic eminence morphology ( J:245546 )

• hypoplasia of the medial ganglionic eminences

exencephaly ( J:245546 )

• 1.4% of embryos exhibit exencephaly

respiratory system

absent nasopharynx ( J:245546 )

• severely affected embryos lack a nasopharynx

respiratory distress ( J:245546 )

• mice delivered by caesarean section at E18.5 show respiratory distress

skeleton

absent basisphenoid bone ( J:245546 )

• basisphenoid bone is absent in severely affected embryos

agnathia ( J:245546 )

• 2.8% of embryos exhibit agnathia

vision/eye

abnormal lens morphology ( J:245546 )

• midfacial defects are associated with lens defects

coloboma ( J:245546 )

• midfacial defects are associated with coloboma

cyclopia ( J:245546 )

• most severely affected embryos exhibit cyclopia

ocular hypotelorism ( J:245546 )

• mildly affected embryos exhibit ocular hypotelorism in combination with complete cleft of the secondary palate

microphthalmia ( J:245546 )

• midfacial defects are associated with microphthalmia

anophthalmia ( J:245546 )

• midfacial defects are associated with mono- or bilateral anophthalmia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly		DOID:4621	OMIM:PS236100	J:245546