Phenotypes associated with this allele

• Allele Symbol: Pibf1^{tm1.1(KOMP)Vlcg}
• Allele Name: targeted mutation 1.1, Velocigene
• Allele ID: MGI:5505638
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pibf1^tm1.1(KOMP)Vlcg/Pibf1^tm1.1(KOMP)Vlcg	B6N(Cg)-Pibf1^tm1.1(KOMP)Vlcg/J	MGI:5631406
hm2	Pibf1^tm1.1(KOMP)Vlcg/Pibf1^tm1.1(KOMP)Vlcg	C57BL/6N-Pibf1^tm1.1(KOMP)Vlcg/JMmucd	MGI:7783573
ht3	Pibf1^tm1.1(KOMP)Vlcg/Pibf1^+	B6N(Cg)-Pibf1^tm1.1(KOMP)Vlcg/J	MGI:5757515

Genotype
MGI:5631406

hm1

• Allelic Composition: Pibf1^{tm1.1(KOMP)Vlcg}/Pibf1^{tm1.1(KOMP)Vlcg}
• Genetic Background: B6N(Cg)-Pibf1^{tm1.1(KOMP)Vlcg}/J
• Cell Lines: 14340A-A3

Data Sources

IMPC Data for Pibf1

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

cardiovascular system

abnormal heart morphology ( J:211773 )

IMPC - JAX

abnormal heart looping ( J:211773 )

IMPC - JAX

embryo

abnormal embryo turning ( J:211773 )

IMPC - JAX

embryonic growth retardation ( J:211773 )

IMPC - JAX

abnormal embryo size ( J:211773 )

IMPC - JAX

abnormal neural tube morphology ( J:211773 )

♂

IMPC - JAX

abnormal neural tube closure ( J:211773 )

IMPC - JAX

growth/size/body

embryonic growth retardation ( J:211773 )

IMPC - JAX

abnormal embryo size ( J:211773 )

IMPC - JAX

mortality/aging

embryonic lethality prior to tooth bud stage ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

nervous system

abnormal neural tube morphology ( J:211773 )

♂

IMPC - JAX

abnormal neural tube closure ( J:211773 )

IMPC - JAX

Genotype
MGI:7783573

hm2

• Allelic Composition: Pibf1^{tm1.1(KOMP)Vlcg}/Pibf1^{tm1.1(KOMP)Vlcg}
• Genetic Background: C57BL/6N-Pibf1^{tm1.1(KOMP)Vlcg}/JMmucd
• Cell Lines: 14340A-A3

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:307969 )

• embryos fail to survive beyond E9.5

cardiovascular system

abnormal heart looping ( J:307969 )

• E9.5 embryos display unlooped, midline hearts

pericardial edema ( J:307969 )

• E9.5 embryos display pericardial edema

embryo

absent embryonic cilia ( J:307969 )

• although gamma-tubulin-positive centrioles are detected, no cilia projecting into the embryonic node lumen are present at E8.5

• consistent with a defect in ciliogenesis, E8.5 embryos show decreased Gli1 expression, indicating defects in Hedgehog signal transduction

cellular

abnormal primary cilium morphology ( J:307969 )

• when serum-starved for 24 h, MEFs derived from E8.5 embryos possess centrioles but exhibit complete loss of cilia, unlike control MEFs

• serum-starved MEFs fail to show induction of the Hedgehog target genes Gli1 and Ptch1 in response to the Hedgehog pathway activator Smoothened agonist (SAG), unlike control MEFs

absent embryonic cilia ( J:307969 )

• although gamma-tubulin-positive centrioles are detected, no cilia projecting into the embryonic node lumen are present at E8.5

• consistent with a defect in ciliogenesis, E8.5 embryos show decreased Gli1 expression, indicating defects in Hedgehog signal transduction

homeostasis/metabolism

pericardial edema ( J:307969 )

• E9.5 embryos display pericardial edema

Genotype
MGI:5757515

ht3

• Allelic Composition: Pibf1^{tm1.1(KOMP)Vlcg}/Pibf1⁺
• Genetic Background: B6N(Cg)-Pibf1^{tm1.1(KOMP)Vlcg}/J
• Cell Lines: 14340A-A3

Data Sources

IMPC Data for Pibf1

behavior/neurological

abnormal sleep behavior ( J:211773 )

IMPC - JAX

cardiovascular system

increased heart weight ( J:211773 )

♂

IMPC - JAX

growth/size/body

increased heart weight ( J:211773 )

♂

IMPC - JAX

homeostasis/metabolism

increased circulating bilirubin level ( J:211773 )

♂

IMPC - JAX