Phenotypes associated with this allele

• Allele Symbol: Mcrip1^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4453021
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mcrip1^tm1(KOMP)Vlcg/Mcrip1^tm1(KOMP)Vlcg	C57BL/6-Mcrip1^tm1(KOMP)Vlcg	MGI:6358238

Genotype
MGI:6358238

hm1

• Allelic Composition: Mcrip1^{tm1(KOMP)Vlcg}/Mcrip1^{tm1(KOMP)Vlcg}
• Genetic Background: C57BL/6-Mcrip1^{tm1(KOMP)Vlcg}

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:278092 )

• most (>50%) homozygotes die within 12 hours after birth

postnatal lethality, incomplete penetrance ( J:278092 )

• number of pups that survive for at least 1 week is significantly lower than that for heterozygous and wild-type controls

respiratory system

abnormal pulmonary alveolus morphology ( J:278092 )

• the alveolar sac space is smaller than that in wild-type lungs

• however, no signs of alveolar endothelial cell abnormalities or vascular leakage are observed

abnormal alveolar lamellar body morphology ( J:278092 )

• the numbers and size of cytoplasmic lamellar bodies in individual type 2 alveolar epithelial cells (AEC2s) are significantly decreased

• however, AEC2 differentiation is normal

decreased alveolar lamellar body number ( J:278092 )

small alveolar lamellar bodies ( J:278092 )

atelectasis ( J:278092 )

• neonatal lungs are relatively deflated and the alveolar sac space is smaller than that in wild-type lungs

tachypnea ( J:278092 )

• most newborn pups exhibit tachypnea

respiratory distress ( J:278092 )

• most newborn pups exhibit gasping breath

respiratory failure ( J:278092 )

• most homozygotes die at the neonatal stage due to respiratory failure

decreased surfactant secretion ( J:278092 )

• whole-lung lysates show a significant reduction in expression of surfactant proteins SP-B and SP-C at both the mRNA and protein levels

• immunohistochemical analysis of lung tissues revealed relatively weak staining of SP-B and SP-C proteins in alveolar epithelial cells

• tubular myelin formation is reduced in the alveolar extracellular space

homeostasis/metabolism

cyanosis ( J:278092 )

• most newborn pups exhibit cyanosis

growth/size/body

decreased body weight ( J:278092 )

• mice that are still alive at the age of 8 weeks show significantly reduced body weight relative to wild-type controls

cellular

abnormal epigenetic regulation of gene expression ( J:278092 )

• the endogenous interaction between Foxp1 and CtBP1 is detected in lung lysates from mutant mice, but not in those from wild-type controls

• fatal respiratory distress is likely due to abnormal transcriptional repression of surfactant proteins SP-B and SP-C