Phenotype: abnormal pulmonary ventilation

Definition
anomaly of the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
Synonyms
abnormal respiratory minute volume
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with abnormal pulmonary ventilation

Total number of significant genotype-phenotype associations: 45

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center
P Value
Aldoc
Aldoctm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
6.64×10-13
Thpo
Thpotm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.41×10-12
Gpsm1
Gpsm1tm2b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
2.51×10-10
Phpt1
Phpt1tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
2.71×10-09
Taar6
Taar6tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
3.34×10-08
Pfn4
Pfn4tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
2.22×10-07
Syt17
Syt17tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.27×10-06
Catsper3
Catsper3tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation 12.5 Mch Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.37×10-06
Klk4
Klk4tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.39×10-06
Parp12
Parp12tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.89×10-06
Kcnj3
Kcnj3tm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation 12.5 Mch Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
2.07×10-06
Arap1
Arap1tm1b(EUCOMM)Wtsi
HOM Early adult decreased pulmonary ventilation 50 Mch Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
2.34×10-06
Semg1
Semg1tm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation 12.5 Mch Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
4.58×10-06
Eps8l1
Eps8l1tm2b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
5.15×10-06
Il13
Il13tm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation 25 Mch Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
6.36×10-06
Trappc2
Trappc2tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation 50 Mch Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
6.51×10-06
Cdh26
Cdh26tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation 25 Mch Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
7.05×10-06
Dusp13b
Dusp13btm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation 50 Mch Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
7.61×10-06
Trappc2
Trappc2tm1.1(KOMP)Vlcg
HEM Early adult decreased pulmonary ventilation baseline Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.02×10-05
Casp4
Casp4tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.04×10-05
Pnck
Pncktm1b(KOMP)Wtsi
HEM Early adult decreased pulmonary ventilation 12.5 Mch Peak Inspiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
1.23×10-05
Kcnj3
Kcnj3tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation baseline Peak Inspiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
1.23×10-05
Adipoq
Adipoqtm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation 50 Mch Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
1.38×10-05
Nadsyn1
Nadsyn1tm1b(KOMP)Wtsi
HOM Early adult increased pulmonary ventilation 50 Mch Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.42×10-05
Spata6
Spata6tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.46×10-05
Gpank1
Gpank1tm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation 50 Mch Peak Inspiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
1.51×10-05
Lrrtm3
Lrrtm3tm1b(KOMP)Mbp
HOM Early adult decreased pulmonary ventilation 50 Mch Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
1.67×10-05
Lrrtm3
Lrrtm3tm1b(KOMP)Mbp
HOM Early adult increased pulmonary ventilation PBS Peak Inspiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
2.08×10-05
Trappc2
Trappc2tm1.1(KOMP)Vlcg
HEM Early adult increased pulmonary ventilation PBS Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
2.52×10-05
Nmral1
Nmral1tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
3.08×10-05
Plcb2
Plcb2tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation 50 Mch Peak Inspiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
3.40×10-05
Gpank1
Gpank1tm1.1(KOMP)Vlcg
HOM Early adult decreased pulmonary ventilation 50 Mch Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
3.59×10-05
Slc13a3
Slc13a3tm1b(KOMP)Wtsi
HOM Early adult increased pulmonary ventilation 50 Mch Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
4.25×10-05
Cdh26
Cdh26tm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation PBS Inspiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
4.79×10-05
Nadsyn1
Nadsyn1tm1b(KOMP)Wtsi
HOM Early adult decreased pulmonary ventilation 50 Mch Peak Expiratory Flow
Challenge Whole Body Plethysmography
TCP
IMPC
6.50×10-05
Lta
Ltatm1.1(KOMP)Vlcg
HOM Early adult increased pulmonary ventilation baseline Expiratory time
Challenge Whole Body Plethysmography
TCP
IMPC
6.86×10-05

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 The way we measure

 Phenotype associations stats

51.79% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal pulmonary ventilation (29/56)

20.22% females (18/89) 24.73% males (23/93)

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