Phenotypes associated with this allele

• Allele Symbol: Hikeshi^1R
• Allele Name: mutation 1, Oak Ridge
• Allele ID: MGI:2449650
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hikeshi^1R/Hikeshi^1R	involves: BALB/cRl * C3H/Rl * C57BL/10Rl	MGI:2449651

Genotype
MGI:2449651

hm1

• Allelic Composition: Hikeshi^1R/Hikeshi^1R
• Genetic Background: involves: BALB/cRl * C3H/Rl * C57BL/10Rl

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:12917 , J:105164 )

• only 80% of the expected number of homozygous embryos survived to birth (J:105164)

preweaning lethality, complete penetrance ( J:54592 )

• animals were described as either prenatally or neonatally lethal

neonatal lethality, complete penetrance ( J:105164 )

• most homozygotes die within 24 hours of birth; all are dead by 48 hours

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:105164 )

N • metabolic screening did not detect significant differences between homozygous mutants and control in measures of urine organic acids and serum amino acids

cyanosis ( J:105164 )

• frequently observed after birth

respiratory system

respiratory system phenotype ( J:105164 )

N • at P0, there is no difference in the lung:body weight ratio compared to controls

N • at P0, there are no differences in lung glycogen content as assessed by Periodic Acid Schiff (PAS) staining

N • the distribution and number of lung macrophages are similar to controls, and mutant lungs are devoid of inflammatory infiltrates

N • immunohistochemistry analysis on lung sections of mutants and controls indicates that the lung cellular composition and cellular distribution was not affected

abnormal lung development ( J:105164 )

• developmental delay during the canalicular stage (E16.5)

• at E17.5, lung saccules are not fully dilated

abnormal club cell morphology ( J:105164 )

• expression levels of cytoplasmic CCSP and SP-B are significantly decreased in Clara cells in mutant lungs

• secretory apparatus in mutant Clara cells is disrupted, with enlargement and disorganization of the Golgi apparatus and vesicular structures of variable size appearing in the cytoplasm

emphysema ( J:105164 )

• significant emphysematous phenotype at birth in homozygous mutant mice

• at P0, distal airways are enlarged