Phenotypes Associated with This Genotype

Genotype
MGI:5796391

• Allelic Composition: Gmnc^{tm1a(KOMP)Wtsi}/Gmnc^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0660_3_A06

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

mortality/aging

postnatal lethality, complete penetrance ( J:230806 )

• mice are born at normal ratios with no apparent defects but die within the first postnatal week

growth/size/body

postnatal growth retardation ( J:230806 )

• mice exhibit severe growth retardation relative to wild-type or heterozygous controls

slow postnatal weight gain ( J:230806 )

• mice show poor postnatal weight gain relative to controls

• however, feeding behavior is normal

respiratory system

absent respiratory motile cilia ( J:230806 )

• at P0, cilia are absent in tracheal epithelial cells, unlike in wild-type controls

increased respiratory mucosa goblet cell number ( J:230806 )

• at P0, mice exhibit increased numbers of mucus-secreting (Muc5ac-positive) cells in the trachea relative to wild-type controls

• in contrast, keratin 5-expressing basal progenitor cells appear unaffected

abnormal tracheal ciliated epithelium morphology ( J:230806 )

• at P0, tracheal epithelial cells lack detectable cilia and exhibit only a couple of centrioles per cell, unlike in wild-type controls where multiple cilia are detected protruding from multiple basal bodies docked in the cell membrane

• mRNA expression of Mcidas and Foxj1 is severely reduced in tracheal epithelial cells at E16.5 and undetectable at P0, indicating that multiciliated cell differentiation is blocked at an early stage of airway development

cellular

absent respiratory motile cilia ( J:230806 )

• at P0, cilia are absent in tracheal epithelial cells, unlike in wild-type controls