Phenotypes associated with this allele

• Allele Symbol: Pgap1^m1Nisw
• Allele Name: mutation 1, Lee Niswander
• Allele ID: MGI:4461887
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pgap1^m1Nisw/Pgap1^m1Nisw	involves: 129S1/SvImJ * C57BL/6J	MGI:6361206
hm2	Pgap1^m1Nisw/Pgap1^m1Nisw	involves: C57BL/6J	MGI:5432254
cx3	Pgap1^m1Nisw/Pgap1^m1Nisw Tg(Hhex-EGFP)#Rbe/0	involves: C57BL/6 * C57BL/6J * CBA/J	MGI:6361209

Genotype
MGI:6361206

hm1

• Allelic Composition: Pgap1^m1Nisw/Pgap1^m1Nisw
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

nervous system

holoprosencephaly ( J:187360 )

• holoprosencephaly and/or eye defects

vision/eye

abnormal eye morphology ( J:187360 )

• holoprosencephaly and/or eye defects

Genotype
MGI:5432254

hm2

• Allelic Composition: Pgap1^m1Nisw/Pgap1^m1Nisw
• Genetic Background: involves: C57BL/6J

craniofacial

abnormal cranium morphology ( J:187360 )

• all elements rostral to the interparietal element and tectum synoticum are largely absent

abnormal cranial cartilage morphology ( J:187360 )

• the tectum synoticum is present as two lateral elements that do not transverse the midline

abnormal interparietal bone morphology ( J:187360 )

• interparietal element is dysmorphic and not ossified

abnormal occipital bone morphology ( J:187360 )

• the supraoccipital and exoccipital elements are not ossified but are present

absent basioccipital bone ( J:187360 )

• the basioccipital element is absent

nervous system

abnormal forebrain development ( J:187360 )

• marker analysis indicates forebrain pattern defect, including a lack of Fgf8 expression in the anterior neural ridge indicating that the anterior neural ridge fail to develop

• early forebrain organizing centers are disrupted

holoprosencephaly ( J:101977 , J:187360 )

• in E11.5 embryos (J:187360)

forebrain hypoplasia ( J:187360 )

• embryos present with anterior truncations of the head

growth/size/body

decreased fetal size ( J:187360 )

• mutants are smaller

• shortening of the femur by 10.4% and of the humerus by 5.7%

skeleton

abnormal cranium morphology ( J:187360 )

• all elements rostral to the interparietal element and tectum synoticum are largely absent

abnormal cranial cartilage morphology ( J:187360 )

• the tectum synoticum is present as two lateral elements that do not transverse the midline

abnormal interparietal bone morphology ( J:187360 )

• interparietal element is dysmorphic and not ossified

abnormal occipital bone morphology ( J:187360 )

• the supraoccipital and exoccipital elements are not ossified but are present

absent basioccipital bone ( J:187360 )

• the basioccipital element is absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly		DOID:4621	OMIM:PS236100	J:187360

Genotype
MGI:6361209

cx3

• Allelic Composition: Pgap1^m1Nisw/Pgap1^m1Nisw; Tg(Hhex-EGFP)#Rbe/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA/J

cellular

abnormal anterior visceral endoderm cell migration ( J:187360 )

embryo

abnormal anterior visceral endoderm cell migration ( J:187360 )

abnormal anterior definitive endoderm morphology ( J:187360 )

• E7.5 embryos exhibit a modest displacement of the anterior definitive endoderm towards the distal tip compared to wild-type embryos

abnormal anterior visceral endoderm morphology ( J:187360 )

• E6.5 embryos exhibit aberrant distal visceral endoderm/anterior visceral endoderm localization, with an expanded population throughout the visceral endoderm

abnormal distal visceral endoderm morphology ( J:187360 )

• E6.5 embryos exhibit aberrant distal visceral endoderm/anterior visceral endoderm localization, with an expanded population throughout the visceral endoderm