Phenotypes associated with this allele

• Allele Symbol: Hesx1^tm2Jpmb
• Allele Name: targeted mutation 2, Juan Pedro Martinez Barbera
• Allele ID: MGI:3822474
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hesx1^tm2Jpmb/Hesx1^tm2Jpmb	involves: 129S/SvEv * C57BL/6J * FVB/N	MGI:3822779
ht2	Hesx1^tm1Icar/Hesx1^tm2Jpmb	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N	MGI:3822780
cn3	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Hesx1^tm1(cre)Jpmb/Hesx1^tm2Jpmb	involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * FVB/N	MGI:3822877

Genotype
MGI:3822779

hm1

• Allelic Composition: Hesx1^tm2Jpmb/Hesx1^tm2Jpmb
• Genetic Background: involves: 129S/SvEv * C57BL/6J * FVB/N

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

vision/eye

abnormal eye morphology ( J:142649 )

• 75% of mutants surviving to weaning age display eye defects

• between days 12.5-17.5, 73% of embryos display eye defects

microphthalmia ( J:142649 )

• 73% of mice at weaning show unilateral or bilateral microphthalmia

• unilateral or bilateral microphthalmia is observed in 59.6% of embryos analyzed between 12.5-17.5 dpc

anophthalmia ( J:142649 )

• anophthalmia is observed in 16.7% of embryos analyzed between 12.5-17.5 dpc

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:142649 )

• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity

• this is the type I phenotype, which is the single pituitary phenotype observed in these animals

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

• pituitary defects are fully penetrant

nervous system

abnormal adenohypophysis morphology ( J:142649 )

• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity

• this is the type I phenotype, which is the single pituitary phenotype observed in these animals

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

• pituitary defects are fully penetrant

craniofacial

abnormal craniofacial morphology ( J:142649 )

• at 15.5-17.5 dpc, some embryos exhibit severe craniofacial defects

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

Genotype
MGI:3822780

ht2

• Allelic Composition: Hesx1^tm1Icar/Hesx1^tm2Jpmb
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * FVB/N

nervous system

abnormal telencephalon development ( J:142649 )

• 26% of embryos analyzed show reduced telencephalic tissue at 12.5-14.5 dpc (days post coitum)

• severity and frequency of forebrain defects are increased in double heterozygotes, due to Hesx1 dosage decrease

vision/eye

microphthalmia ( J:142649 )

• all embryos analyzed display severe bilateral microphthalmia or anophthalmia between 12.5 and 14.5 dpc

• some affected embryos also show reduction in telencephalic tissue

anophthalmia ( J:142649 )

• all embryos analyzed display severe bilateral microphthalmia or anophthalmia between 12.5 and 14.5 dpc

• some affected embryos also show reduction in telencephalic tissue

Genotype
MGI:3822877

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Hesx1^tm1(cre)Jpmb/Hesx1^tm2Jpmb
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * FVB/N

nervous system

decreased forebrain size ( J:142649 )

• anterior to posterior cell fate transformation is detected at 10 days post coitum, resulting in anterior forebrain reduction