Phenotypes associated with this allele

• Allele Symbol: Loxl3^tm1.1Jgao
• Allele Name: targeted mutation 1.1, Jiangang Gao
• Allele ID: MGI:5750162
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Loxl3^tm1.1Jgao/Loxl3^tm1.1Jgao	involves: 129S6/SvEvTac * C57BL/6J	MGI:5750200

Genotype
MGI:5750200

hm1

• Allelic Composition: Loxl3^tm1.1Jgao/Loxl3^tm1.1Jgao
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:226416 )

• all mice die by P1

neonatal lethality, incomplete penetrance ( J:226416 )

• most mice die shortly after birth

• however, mice are present in Mendelian numbers at E18.5

craniofacial

abnormal craniofacial morphology ( J:226416 )

• at E18.5

short mandible ( J:226416 )

• short and bent

abnormal vomer bone morphology ( J:226416 )

• distorted at E18.5

abnormal palate development ( J:226416 )

• reduced mineralization of the truncated palatal shelves at E18.5

• abnormal collagen fibers (decreased density and altered cross-links) in palatal shelves

palatal shelves fail to meet at midline ( J:226416 )

• unfused at E15.5, E16.5 and E18.5

cleft palate ( J:226416 )

• severe in all newborn mice

failure of palatal shelf elevation ( J:226416 )

• at E14.5

• however, no abnormal apoptosis or proliferation is observed in the palate at E14.5

skeleton

short mandible ( J:226416 )

• short and bent

abnormal vomer bone morphology ( J:226416 )

• distorted at E18.5

abnormal vertebral column morphology ( J:226416 )

• spine defects at E18.5

• spine deformity in newborn mice

abnormal spine curvature ( J:226416 )

abnormal vertebral body morphology ( J:226416 )

abnormal vertebral body development ( J:226416 )

• enlarged and bent cartilage primordia of the thoracic vertebrae at E14.5

• collagen fiber abnormality (decreased area and altered cross-links) in cartilage priomodia of the thoracic vertebrae

growth/size/body

abnormal palate development ( J:226416 )

• reduced mineralization of the truncated palatal shelves at E18.5

• abnormal collagen fibers (decreased density and altered cross-links) in palatal shelves

palatal shelves fail to meet at midline ( J:226416 )

• unfused at E15.5, E16.5 and E18.5

cleft palate ( J:226416 )

• severe in all newborn mice

failure of palatal shelf elevation ( J:226416 )

• at E14.5

• however, no abnormal apoptosis or proliferation is observed in the palate at E14.5

abnormal chest morphology ( J:226416 )

• thorax deformity

• however, the diaphragm is intact

respiratory system

respiratory system phenotype ( J:226416 )

N • mice exhibit normal trachea, bronchi and lung vasculature

abnormal pulmonary alveolus morphology ( J:226416 )

• small

cardiovascular system

cardiovascular system phenotype ( J:226416 )

N • mice exhibit normal hearts, aortas and lung vasculature

integument

integument phenotype ( J:226416 )

N • mice exhibit normal skin

vision/eye

vision/eye phenotype ( J:226416 )

N • mice exhibit normal eye structure with normal area of collagen fibers

digestive/alimentary system

abnormal palate development ( J:226416 )

• reduced mineralization of the truncated palatal shelves at E18.5

• abnormal collagen fibers (decreased density and altered cross-links) in palatal shelves

palatal shelves fail to meet at midline ( J:226416 )

• unfused at E15.5, E16.5 and E18.5

cleft palate ( J:226416 )

• severe in all newborn mice

failure of palatal shelf elevation ( J:226416 )

• at E14.5

• however, no abnormal apoptosis or proliferation is observed in the palate at E14.5