Phenotypes associated with this allele

• Allele Symbol: Gskip^tm1.2Ekn
• Allele Name: targeted mutation 1.2, Enno Klussmann
• Allele ID: MGI:5784741
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gskip^tm1.2Ekn/Gskip^tm1.2Ekn	B6.129P2(Cg)-Gskip^tm1.2Ekn	MGI:5784865

Genotype
MGI:5784865

hm1

• Allelic Composition: Gskip^tm1.2Ekn/Gskip^tm1.2Ekn
• Genetic Background: B6.129P2(Cg)-Gskip^tm1.2Ekn

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:228948 )

• fewer than expected mice are present at E16.5

• however, many mice are still alive at E18.5

neonatal lethality, complete penetrance ( J:228948 )

• all mice die rapidly within 5 to 30 minutes after Caesarean section

craniofacial

abnormal palatal shelf morphology ( J:228948 )

• disturbed secondary palate shelf formation in the upper jaw

palatal shelves fail to meet at midline ( J:228948 )

abnormal hard palate morphology ( J:228948 )

• invagination-like elevated cartilage structures along the lateral hard palate fusion line in the anterior direction

cleft secondary palate ( J:228948 )

• at E16.5 and E18.5

respiratory system

respiratory system phenotype ( J:228948 )

N • mice exhibit normal lung weight, diaphragm, gasping movement and costal retraction

primary atelectasis ( J:228948 )

respiratory failure ( J:228948 )

• mice do not initiate breathing at birth

behavior/neurological

decreased vocalization ( J:228948 )

• newborn mice fail to emit sounds upon soft pressure on their tail unlike wild-type mice

homeostasis/metabolism

cyanosis ( J:228948 )

• at birth

integument

pallor ( J:228948 )

• at birth

skeleton

skeleton phenotype ( J:228948 )

N • mice exhibit normal bone mineralization and ossification in areas outside of the upper jaw

delayed bone ossification ( J:228948 )

• in the secondary palate shelf fusion area

digestive/alimentary system

abnormal palatal shelf morphology ( J:228948 )

• disturbed secondary palate shelf formation in the upper jaw

palatal shelves fail to meet at midline ( J:228948 )

abnormal hard palate morphology ( J:228948 )

• invagination-like elevated cartilage structures along the lateral hard palate fusion line in the anterior direction

cleft secondary palate ( J:228948 )

• at E16.5 and E18.5

growth/size/body

abnormal palatal shelf morphology ( J:228948 )

• disturbed secondary palate shelf formation in the upper jaw

palatal shelves fail to meet at midline ( J:228948 )

abnormal hard palate morphology ( J:228948 )

• invagination-like elevated cartilage structures along the lateral hard palate fusion line in the anterior direction

cleft secondary palate ( J:228948 )

• at E16.5 and E18.5