Phenotypes associated with this allele

• Allele Symbol: Pign^m1Nisw
• Allele Name: mutation 1, Lee Niswander
• Allele ID: MGI:4460999
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pign^m1Nisw/Pign^m1Nisw	involves: 129S1/SvImJ * C3H/HeJ * C57BL/6J	MGI:5437465
hm2	Pign^m1Nisw/Pign^m1Nisw	involves: C3H/HeJ * C57BL/6J	MGI:6361198
cx3	Pign^m1Nisw/Pign^m1Nisw Tg(Hhex-EGFP)#Rbe/0	involves: 129S1/SvImJ * C3H/HeJ * CBA/J * C57BL/6 * C57BL/6J	MGI:6361208

Genotype
MGI:5437465

hm1

• Allelic Composition: Pign^m1Nisw/Pign^m1Nisw
• Genetic Background: involves: 129S1/SvImJ * C3H/HeJ * C57BL/6J

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

limbs/digits/tail

short femur ( J:187360 )

• shortening of the femur by 11% but not the humerus at E18.5

craniofacial

abnormal cranium morphology ( J:187360 )

• bone and cartilage structures anterior to the interparietal element remain symmetrical yet are grossly misshapen

abnormal cranial cartilage morphology ( J:187360 )

• the tectum synoticum is narrower at the anterior midline

• cartilage structures anterior to the inerparietal element remain symmetrical yet are grossly mishapen

abnormal interparietal bone morphology ( J:187360 )

• the interparietal element is tiny and misshapen

small interparietal bone ( J:187360 )

• the interparietal element is tiny

abnormal occipital bone morphology ( J:187360 )

• occipital elements at the base of the skull are dysmorphic

• the supraoccipital and exoccipital elements are fused

• however, the basioccipital element appears normal

abnormal supraoccipital bone morphology ( J:187360 )

• the supraoccipital is present as two lateral bony elements instead of the normal rod-like shape

proboscis ( J:187360 )

• mutants show a large proboscis at E18.5

vision/eye

coloboma ( J:101977 )

microphthalmia ( J:101977 )

growth/size/body

proboscis ( J:187360 )

• mutants show a large proboscis at E18.5

decreased fetal size ( J:187360 )

• E18.5 mutants are smaller

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 fails to develop

• early forebrain organizing centers are disrupted

holoprosencephaly ( J:187360 )

forebrain hypoplasia ( J:101977 , J:187360 )

• truncation (J:101977)

• mutants show midbrain/forebrain truncation at E18.5 (J:187360)

midbrain hypoplasia ( J:187360 )

• mutants show midbrain/forebrain truncation at E18.5

embryo

abnormal gastrulation ( J:101977 )

skeleton

abnormal cranium morphology ( J:187360 )

• bone and cartilage structures anterior to the interparietal element remain symmetrical yet are grossly misshapen

abnormal cranial cartilage morphology ( J:187360 )

• the tectum synoticum is narrower at the anterior midline

• cartilage structures anterior to the inerparietal element remain symmetrical yet are grossly mishapen

abnormal interparietal bone morphology ( J:187360 )

• the interparietal element is tiny and misshapen

small interparietal bone ( J:187360 )

• the interparietal element is tiny

abnormal occipital bone morphology ( J:187360 )

• occipital elements at the base of the skull are dysmorphic

• the supraoccipital and exoccipital elements are fused

• however, the basioccipital element appears normal

abnormal supraoccipital bone morphology ( J:187360 )

• the supraoccipital is present as two lateral bony elements instead of the normal rod-like shape

short femur ( J:187360 )

• shortening of the femur by 11% but not the humerus at E18.5

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

Genotype
MGI:6361198

hm2

• Allelic Composition: Pign^m1Nisw/Pign^m1Nisw
• Genetic Background: involves: C3H/HeJ * C57BL/6J

craniofacial

proboscis ( J:187360 )

• presence of large proboscis that dominates the craniofacial region

embryo

abnormal gastrulation ( J:187360 )

• 9 of 39 embryos show gastrulation defects

growth/size/body

proboscis ( J:187360 )

• presence of large proboscis that dominates the craniofacial region

nervous system

holoprosencephaly ( J:187360 )

• 16 of 39 embryos exhibit holoprosencephaly-like phenotype in which embryos either display midline defects (2/39) or anterior truncations (14/39)

forebrain hypoplasia ( J:187360 )

• anterior truncations in 14 of 39 mice

vision/eye

abnormal eye morphology ( J:187360 )

• 14 of 39 embryos show dysmorphic eyes

Genotype
MGI:6361208

cx3

• Allelic Composition: Pign^m1Nisw/Pign^m1Nisw; Tg(Hhex-EGFP)#Rbe/0
• Genetic Background: involves: 129S1/SvImJ * C3H/HeJ * CBA/J * C57BL/6 * C57BL/6J

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 a displacement at the distal tip

abnormal distal visceral endoderm morphology ( J:187360 )

• E6.5 embryos exhibit aberrant distal visceral endoderm/anterior visceral endoderm localization, with a displacement at the distal tip