Phenotypes associated with this allele

• Allele Symbol: Grhl2^m1Nisw
• Allele Name: mutation 1, Lee Niswander
• Allele ID: MGI:4942413
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grhl2^m1Nisw/Grhl2^m1Nisw	129S1.B6-Grhl2^m1Nisw	MGI:4943238
hm2	Grhl2^m1Nisw/Grhl2^m1Nisw	involves: C3HeB/FeJ * C57BL/6J	MGI:4943239

Genotype
MGI:4943238

hm1

• Allelic Composition: Grhl2^m1Nisw/Grhl2^m1Nisw
• Genetic Background: 129S1.B6-Grhl2^m1Nisw

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

mortality/aging

lethality, incomplete penetrance ( J:169829 )

• most mice die at E9.5

embryonic lethality during organogenesis, incomplete penetrance ( J:169829 )

• most mice die at E9.5

reproductive system

decreased litter size ( J:169829 )

• female mice yield smaller than expected litters compared with wild-type mice

cardiovascular system

abnormal heart morphology ( J:169829 )

• anemic heart at E18.5

abnormal heart ventricle morphology ( J:169829 )

• at E18.5, ventricles contain larger spaces than in wild-type mice

thin ventricular wall ( J:169829 )

• at E14.5

embryo

embryonic growth retardation ( J:169829 )

• at E10.5

decreased embryo size ( J:169829 )

• at E10.5

open neural tube ( J:169829 )

• at E10.5, mice exhibit open, wavy neural folds unlike in wild-type mice

• however, mice exhibit normal patterning, proliferation, and differentiation in the neural tube

growth/size/body

facial cleft ( J:169829 )

• with upper jaw and upper part of the face failing to close

• however, the lower jaw is normal

embryonic growth retardation ( J:169829 )

• at E10.5

decreased embryo size ( J:169829 )

• at E10.5

thoracoabdominoschisis ( J:169829 )

• primary thoracoabdominoschisis in all mice at E12.5 or later

nervous system

open neural tube ( J:169829 )

• at E10.5, mice exhibit open, wavy neural folds unlike in wild-type mice

• however, mice exhibit normal patterning, proliferation, and differentiation in the neural tube

exencephaly ( J:169829 )

• in the hind-, mid-, and forebrain

respiratory system

small lung lobe ( J:169829 )

abnormal respiratory conducting tube morphology ( J:169829 )

• small and collapsed at E18.5

craniofacial

facial cleft ( J:169829 )

• with upper jaw and upper part of the face failing to close

• however, the lower jaw is normal

Genotype
MGI:4943239

hm2

• Allelic Composition: Grhl2^m1Nisw/Grhl2^m1Nisw
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

mortality/aging

lethality, incomplete penetrance ( J:169829 )

• some mice survive to E18.5

lethality throughout fetal growth and development, complete penetrance ( J:169829 )

• Background Sensitivity: some mice survive to E18.5 on a mixed background

craniofacial

abnormal cranium morphology ( J:169829 )

• at E18.5, mice lack components of the top of the skull and midface unlike wild-type mice

• however, mice exhibit normal lower jaw and ventral skull

abnormal midface morphology ( J:169829 )

• at E18.5, mice lack components of the midface unlike wild-type mice

facial cleft ( J:169829 )

• all mice exhibit cleft face or unilateral or bilateral cleft

skeleton

abnormal cranium morphology ( J:169829 )

• at E18.5, mice lack components of the top of the skull and midface unlike wild-type mice

• however, mice exhibit normal lower jaw and ventral skull

split sternum ( J:169829 )

limbs/digits/tail

syndactyly ( J:169829 )

• of soft tissue

interdigital webbing ( J:169829 )

• in some mice

nervous system

open neural tube ( J:169829 )

• at E9.5

• however, neural folds elevate normally

exencephaly ( J:169829 )

• in all mice

embryo

open neural tube ( J:169829 )

• at E9.5

• however, neural folds elevate normally

growth/size/body

abnormal midface morphology ( J:169829 )

• at E18.5, mice lack components of the midface unlike wild-type mice

facial cleft ( J:169829 )

• all mice exhibit cleft face or unilateral or bilateral cleft

abnormal body wall morphology ( J:169829 )

• in 50% of mice

vision/eye

coloboma ( J:169829 )