Phenotypes associated with this allele

• Allele Symbol: Nubp1^m1Nisw
• Allele Name: mutation 1, Lee Niswander
• Allele ID: MGI:5463617
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nubp1^m1Nisw/Nubp1^m1Nisw	129S1.B6-Nubp1^m1Nisw	MGI:5463618
ht2	Nubp1^m1Nisw/Nubp1^tm1a(EUCOMM)Wtsi	involves: 129S1/SvImJ * C57BL/6J * C57BL/6N	MGI:5463632

Genotype
MGI:5463618

hm1

• Allelic Composition: Nubp1^m1Nisw/Nubp1^m1Nisw
• Genetic Background: 129S1.B6-Nubp1^m1Nisw

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

mortality/aging

neonatal lethality, complete penetrance ( J:191793 )

respiratory system

abnormal lung morphology ( J:191793 )

• decrease in airway number and increase in airway diameter at E18.5

abnormal lung development ( J:191793 )

• approximately a 30% decrease in proliferation of epithelial cells at E14.5 and E16.5 but an increase is detected at E18.5

• an increase in apoptosis of epithelial cells is detected at E14.5

abnormal branching involved in lung morphogenesis ( J:191793 )

• severely impaired with a decrease in distal, but not proximal, airway markers at E18.5

abnormal lung epithelium morphology ( J:191793 )

• architecture is disrupted with epithelial cells arranged in a mushroom like pattern and appearing partially delaminated from the basal lamina

pulmonary hypoplasia ( J:191793 )

• severe hypoplasia of all lobes at E18.5

respiratory failure ( J:191793 )

limbs/digits/tail

abnormal digit morphology ( J:191793 )

• gross malformation is seen on both hind and forelimbs at E18.5

oligodactyly ( J:191793 )

• decrease in the number of digits on both hind and forelimbs at E18.5

syndactyly ( J:191793 )

• at E18.5 on both hind and forelimbs

vision/eye

cataract ( J:191793 )

• in about 30% of embryos

Genotype
MGI:5463632

ht2

• Allelic Composition: Nubp1^m1Nisw/Nubp1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J * C57BL/6N

respiratory system

pulmonary hypoplasia ( J:191793 )

• severe hypoplasia

limbs/digits/tail

syndactyly ( J:191793 )