Phenotypes associated with this allele

• Allele Symbol: Robo1^tm1Phr
• Allele Name: targeted mutation 1, Pamela H Rabbitts
• Allele ID: MGI:2654881
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Robo1^tm1Phr/Robo1^tm1Phr	involves: 129P2/OlaHsd * C57BL/6	MGI:2654885
ht2	Robo1^tm1Phr/Robo1^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3806464

Genotype
MGI:2654885

hm1

• Allelic Composition: Robo1^tm1Phr/Robo1^tm1Phr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Lung abnormalities of Robo1^tm1Phr/Robo1^tm1Phr mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:73485 )

• 63% die within the first 24 hours after birth

behavior/neurological

aphagia ( J:73485 )

• mutants fail to feed at birth

respiratory system

abnormal lung morphology ( J:73485 )

• lungs are abnormal as early as E15.5

• lungs are frequently dark red at autopsy

abnormal lung development ( J:73485 )

• developmental delay of 0.5-1 day

abnormal pulmonary alveolus morphology ( J:73485 )

• lungs exhibit increased cellularity of the mesenchyme, resulting in a reduction of the size of terminal air spaces

abnormal pulmonary interalveolar septum morphology ( J:73485 )

• reduction in the number of alveolar septa

thick pulmonary interalveolar septum ( J:73485 )

• neonatal alveolar septa are thicker than normal

abnormal bronchiole morphology ( J:73485 )

• bronchioles are of an irregular cross section

abnormal bronchus morphology ( J:73485 )

• papillary hyperplasia throughout the entire bronchial tree

• focal dysplasia that is characterized by increased epithelial cell layers, large pleomorphic nuclei, and reduced cytoplasm

bronchial epithelial hyperplasia ( J:73485 )

• mutants surviving the first 24 hours after birth develop bronchial epithelial hyperplasia

• of the mice surviving beyond the first 24 hours after birth, 15 of 22 show signs of morbidity at ages from 3 weeks to 13 months

respiratory failure ( J:73485 )

Genotype
MGI:3806464

ht2

• Allelic Composition: Robo1^tm1Phr/Robo1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

neoplasm

increased lymphoma incidence ( J:93666 )

• spontaneously develop lung lymphomas and carcinomas during the second year of life with a 3-fold increase in incidence compared with controls

increased carcinoma incidence ( J:93666 )

• spontaneously develop lung lymphomas and carcinomas during the second year of life with a 3-fold increase in incidence compared with controls

increased lung adenocarcinoma incidence ( J:93666 )

• 26.5% of tumors that develop in heterozygotes are lung adenocarcinomas

respiratory system

increased lung adenocarcinoma incidence ( J:93666 )

• 26.5% of tumors that develop in heterozygotes are lung adenocarcinomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lung cancer		DOID:1324	OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210	J:93666