Phenotypes associated with this allele

• Allele Symbol: Irx1^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4399218
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Irx1^tm1(KOMP)Vlcg/Irx1^tm1(KOMP)Vlcg	involves: C57BL/6NTac	MGI:6159994

Genotype
MGI:6159994

hm1

• Allelic Composition: Irx1^{tm1(KOMP)Vlcg}/Irx1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac

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

mortality/aging

neonatal lethality, complete penetrance ( J:248919 )

• pups are born with expected Mendelian frequency but die within several hours of delivery; no live homozygotes are detected at P1

homeostasis/metabolism

cyanosis ( J:248919 )

• newborns pups have a purple body color

behavior/neurological

absent gastric milk in neonates ( J:248919 )

• newborns show no evidence of milk ingestion

• however, no cleft palate defects are observed at P0

respiratory system

abnormal lung development ( J:248919 )

• newborns show delayed lung maturation

small lung ( J:248919 )

• at E16.5 and P0, lungs are smaller than normal

• however, neonatal total body weight is not significantly altered

atelectasis ( J:248919 )

• lungs are not inflated; histological analysis of lungs at E18.5 and P0 suggests that the saccular space may collapse after birth

respiratory distress ( J:248919 )

• newborns show labored breathing and difficulties with respiration

abnormal respiratory mechanics ( J:248919 )

• newborns show abnormal thoracic contractions

respiratory failure ( J:248919 )

decreased surfactant secretion ( J:248919 )

• immunostaining revealed that surfactant protein C (SP-C) protein levels are reduced at P0

• RT-PCR analysis confirmed that mRNA levels of Sftpa1, Sftpc and Sftpd are significantly down-regulated at E18.5

growth/size/body

abnormal lower incisor morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

small lower incisors ( J:248919 )

• at E18.5, lower incisor growth is delayed

short lower incisors ( J:248919 )

• at E18.5 and P0, lower incisors are ~85% the length of wild-type lower incisors

abnormal tooth development ( J:248919 )

abnormal odontoblast morphology ( J:248919 )

• at P0, odontoblasts appear underdeveloped

abnormal ameloblast differentiation ( J:248919 )

• at P0, preameloblasts of the inner enamel epithelium appear underdeveloped

abnormal dental epithelium morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

abnormal outer dental epithelium morphology ( J:248919 )

• at P0, the outer enamel epithelium (OEE) layer appears underdeveloped

• lower incisors exhibit less X-gal positive cells in the OEE cell layer than wild-type lower incisors, indicating that the dental stem cell to OEE differentiation pathway is down-regulated

abnormal stratum intermedium morphology ( J:248919 )

• at P0, the stratum intermedium cell layer appears underdeveloped

growth retardation of incisors ( J:248919 )

• at E13.5, the invagination of dental development is delayed in lower incisors

• at E18.5, lower incisor growth is delayed

craniofacial

abnormal lower incisor morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

small lower incisors ( J:248919 )

• at E18.5, lower incisor growth is delayed

short lower incisors ( J:248919 )

• at E18.5 and P0, lower incisors are ~85% the length of wild-type lower incisors

abnormal tooth development ( J:248919 )

abnormal odontoblast morphology ( J:248919 )

• at P0, odontoblasts appear underdeveloped

abnormal ameloblast differentiation ( J:248919 )

• at P0, preameloblasts of the inner enamel epithelium appear underdeveloped

abnormal dental epithelium morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

abnormal outer dental epithelium morphology ( J:248919 )

• at P0, the outer enamel epithelium (OEE) layer appears underdeveloped

• lower incisors exhibit less X-gal positive cells in the OEE cell layer than wild-type lower incisors, indicating that the dental stem cell to OEE differentiation pathway is down-regulated

abnormal stratum intermedium morphology ( J:248919 )

• at P0, the stratum intermedium cell layer appears underdeveloped

growth retardation of incisors ( J:248919 )

• at E13.5, the invagination of dental development is delayed in lower incisors

• at E18.5, lower incisor growth is delayed

skeleton

abnormal lower incisor morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

small lower incisors ( J:248919 )

• at E18.5, lower incisor growth is delayed

short lower incisors ( J:248919 )

• at E18.5 and P0, lower incisors are ~85% the length of wild-type lower incisors

abnormal tooth development ( J:248919 )

abnormal odontoblast morphology ( J:248919 )

• at P0, odontoblasts appear underdeveloped

abnormal ameloblast differentiation ( J:248919 )

• at P0, preameloblasts of the inner enamel epithelium appear underdeveloped

abnormal dental epithelium morphology ( J:248919 )

• at E13.5, lower incisors exhibit reduced cell differentiation (poorly polarized dental epithelium)

abnormal outer dental epithelium morphology ( J:248919 )

• at P0, the outer enamel epithelium (OEE) layer appears underdeveloped

• lower incisors exhibit less X-gal positive cells in the OEE cell layer than wild-type lower incisors, indicating that the dental stem cell to OEE differentiation pathway is down-regulated

abnormal stratum intermedium morphology ( J:248919 )

• at P0, the stratum intermedium cell layer appears underdeveloped

growth retardation of incisors ( J:248919 )

• at E13.5, the invagination of dental development is delayed in lower incisors

• at E18.5, lower incisor growth is delayed