Phenotypes associated with this allele

• Allele Symbol: Ano1^tm1Bdh
• Allele Name: targeted mutation 1, Brian D Harfe
• Allele ID: MGI:3809591
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ano1^tm1Bdh/Ano1^tm1Bdh	involves: 129S1/Sv	MGI:3809595

Genotype
MGI:3809595

hm1

• Allelic Composition: Ano1^tm1Bdh/Ano1^tm1Bdh
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

postnatal lethality, complete penetrance ( J:138613 )

• over 90% of mice die within the first 9 days of life and all die prior to P30

respiratory system

abnormal bronchial cartilage morphology ( J:138613 )

• cartilage plates on the bronchi are abnormally patterned

abnormal trachea morphology ( J:138613 )

• at E13.5, the circumference of the trachea is 40% greater than in wild-type mice

• at E14.5, the circumference of the trachea is 50% greater than in wild-type mice

• embryonic tracheal epithelium stratification is absent resulting in thinner epithelium than in wild-type mice

abnormal tracheal smooth muscle morphology ( J:138613 )

• development of smooth muscle cells is severely disrupted with globular distribution of cells rather than the filaments observed in wild-type mice

• the trachaelis muscle is absent from the dorsal aspect of the trachea

abnormal tracheal ciliated epithelium morphology ( J:138613 )

• mice lack ciliated epithelial cells in regions of evaginated tracheal epithelium

• however, the remainder of the tracheal epithelium is normally ciliated

abnormal tracheal cartilage morphology ( J:138613 )

• mice exhibit ventral gaps in the entire rostrocaudal axis of the tracheae that are observed as early as E15.5 in all mice

• trachea cartilage rings exhibit multiple disconnected cartilage condensations with intervening epithelial evaginations

• however, prechondrocytes are present at E12.5 and there is no change in proliferation or apoptosis rates in the trachea

growth/size/body

decreased body weight ( J:138613 )

• at P3, mice weight 65% of wild-type

• at P21, surviving mice weight less than half as mice as wild-type mice

slow postnatal weight gain ( J:138613 )

homeostasis/metabolism

cyanosis ( J:138613 )

• mice have a cyanotic appearance

muscle

abnormal tracheal smooth muscle morphology ( J:138613 )

• development of smooth muscle cells is severely disrupted with globular distribution of cells rather than the filaments observed in wild-type mice

• the trachaelis muscle is absent from the dorsal aspect of the trachea

skeleton

abnormal tracheal cartilage morphology ( J:138613 )

• mice exhibit ventral gaps in the entire rostrocaudal axis of the tracheae that are observed as early as E15.5 in all mice

• trachea cartilage rings exhibit multiple disconnected cartilage condensations with intervening epithelial evaginations

• however, prechondrocytes are present at E12.5 and there is no change in proliferation or apoptosis rates in the trachea

digestive/alimentary system

aerophagia ( J:138613 )

• mice exhibit aerophagia