Phenotypes associated with this allele

• Allele Symbol: Cftr^tm2Mrc
• Allele Name: targeted mutation 2, Mario R Capecchi
• Allele ID: MGI:3688281
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cftr^tm2Mrc/Cftr^tm2Mrc	B6.129S6-Cftr^tm2Mrc	MGI:3689380

Genotype
MGI:3689380

hm1

• Allelic Composition: Cftr^tm2Mrc/Cftr^tm2Mrc
• Genetic Background: B6.129S6-Cftr^tm2Mrc

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

digestive/alimentary system

digestive/alimentary phenotype ( J:112450 )

N • able to eat a solid diet without developing intestinal blockage

growth/size/body

postnatal growth retardation ( J:112450 )

• did not differ significantly from wild-type controls at 7 days of age (P 0.05) but weighed significantly less than controls at 21 days of age

hematopoietic system

decreased neutrophil cell number ( J:112450 )

• lower relative neutrophil numbers

abnormal alveolar macrophage morphology ( J:112450 )

• greater absolute alveolar macrophage numbers

immune system

decreased neutrophil cell number ( J:112450 )

• lower relative neutrophil numbers

abnormal alveolar macrophage morphology ( J:112450 )

• greater absolute alveolar macrophage numbers

lung inflammation ( J:112450 )

• increased inflammatory response to chronic Pseudomonas aeruginosa infection, identical to that in Cftr^tm1Unc homozygotes

increased susceptibility to bacterial infection induced morbidity/mortality ( J:112450 )

• reduced ability to respond to lung infection elicited with Pseudomonas aeruginosa- laden agarose beads

mortality/aging

increased susceptibility to bacterial infection induced morbidity/mortality ( J:112450 )

• reduced ability to respond to lung infection elicited with Pseudomonas aeruginosa- laden agarose beads

respiratory system

abnormal alveolar macrophage morphology ( J:112450 )

• greater absolute alveolar macrophage numbers

lung inflammation ( J:112450 )

• increased inflammatory response to chronic Pseudomonas aeruginosa infection, identical to that in Cftr^tm1Unc homozygotes

decreased respiratory epithelial chloride transmembrane transport ( J:112450 )

• after treatment with a chloride-depleted solution with amiloride and forskolin, the nasal potential difference (PD) was significantly different between control mice and homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:112450