Phenotypes associated with this allele

• Allele Symbol: Trappc9^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4461737
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trappc9^tm1a(EUCOMM)Wtsi/Trappc9^tm1a(EUCOMM)Wtsi	C57BL/6N-Trappc9^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5797886
hm2	Trappc9^tm1a(EUCOMM)Wtsi/Trappc9^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:6717362
ht3	Trappc9^tm1a(EUCOMM)Wtsi/Trappc9^+	involves: C57BL/6N	MGI:6717371

Genotype
MGI:5797886

hm1

• Allelic Composition: Trappc9^{tm1a(EUCOMM)Wtsi}/Trappc9^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Trappc9^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0596_4_E10

Data Sources

IMPC Data for Trappc9

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

adipose tissue

increased total body fat amount ( J:211773 )

♀

IMPC - WTSI

behavior/neurological

decreased grip strength ( J:211773 )

IMPC - WTSI

cardiovascular system

absent segment of posterior cerebral artery ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

dual inferior vena cava ( J:239583 )

DMDD

abnormal inferior vena cava valve morphology ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

abnormal pulmonary valve cusp morphology ( J:239583 )

DMDD

hemorrhage ( J:239583 )

DMDD

internal hemorrhage ( J:239583 )

DMDD

endocrine/exocrine glands

abnormal cystic duct morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

growth/size/body

decreased lean body mass ( J:211773 )

♀

IMPC - WTSI

thoracoschisis ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hematopoietic system

decreased mean corpuscular hemoglobin ( J:211773 )

♂

IMPC - WTSI

increased red blood cell distribution width ( J:211773 )

♀

IMPC - WTSI

increased mean platelet volume ( J:211773 )

IMPC - WTSI

increased CD11b-high dendritic cell number ( J:211773 )

IMPC - WTSI

decreased CD11b-low dendritic cell number ( J:211773 )

IMPC - WTSI

decreased KLRG1-positive NK cell number ( J:211773 )

IMPC - WTSI

decreased gamma-delta T cell number ( J:211773 )

♀

IMPC - WTSI

increased monocyte cell number ( J:211773 )

♀

IMPC - WTSI

increased Ly6C high monocyte number ( J:211773 )

♀

IMPC - WTSI

increased Ly6C low monocyte number ( J:211773 )

♀

IMPC - WTSI

homeostasis/metabolism

increased fasting circulating glucose level ( J:211773 )

IMPC - WTSI

increased circulating insulin level ( J:211773 )

♀

IMPC - WTSI

increased circulating sodium level ( J:211773 )

♂

IMPC - WTSI

impaired glucose tolerance ( J:211773 )

♀

IMPC - WTSI

immune system

increased CD11b-high dendritic cell number ( J:211773 )

IMPC - WTSI

decreased CD11b-low dendritic cell number ( J:211773 )

IMPC - WTSI

decreased KLRG1-positive NK cell number ( J:211773 )

IMPC - WTSI

decreased gamma-delta T cell number ( J:211773 )

♀

IMPC - WTSI

increased monocyte cell number ( J:211773 )

♀

IMPC - WTSI

increased Ly6C high monocyte number ( J:211773 )

♀

IMPC - WTSI

increased Ly6C low monocyte number ( J:211773 )

♀

IMPC - WTSI

blood in lymph vessels ( J:239583 )

DMDD

integument

abnormal vibrissa morphology ( J:211773 )

♂

IMPC - WTSI

liver/biliary system

abnormal cystic duct morphology ( J:239583 )

DMDD

muscle

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

neoplasm

increased hemangioma incidence ( J:239583 )

DMDD

nervous system

absent segment of posterior cerebral artery ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal lateral ventricle morphology ( J:239583 )

DMDD

abnormal dorsal root ganglion morphology ( J:239583 )

DMDD

renal/urinary system

abnormal urethra morphology ( J:239583 )

DMDD

respiratory system

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

skeleton

decreased bone mineral content ( J:211773 )

♀

IMPC - WTSI

Genotype
MGI:6717362

hm2

• Allelic Composition: Trappc9^{tm1a(EUCOMM)Wtsi}/Trappc9^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

nervous system

decreased brain size ( J:294716 )

• at 16 weeks of age, total brain area is decreased by 12.7%, with a 4.1% decrease in width and a 9.8% decrease in height of the whole brain

• both grey and white matter are affected

decreased brain weight ( J:294716 )

• homozygotes show a 11% reduction in adult brain weight relative to wild-type controls

decreased corpus callosum size ( J:294716 )

• 12.7% reduction in the areas of the corpus callosum

decreased substantia nigra size ( J:294716 )

• 49.1% overall decrease in the area of the substantia nigra

small thalamus ( J:294716 )

• 15.9% reduction in the area of the thalamus

decreased cingulate cortex size ( J:294716 )

• 25.7% and 12.1% reduction, respectively, in the area and height of the cingulate cortex

decreased hippocampal fimbria size ( J:294716 )

• 17.7% reduction in the area of the fimbria of the hippocampus

abnormal cerebral cortex morphology ( J:294716 )

• 10% reduction in total area of the cortex

decreased primary motor cortex size ( J:294716 )

• 11.7% reduction in the thickness of the primary motor cortex

growth/size/body

increased body fat mass ( J:294716 )

♀ • females, but not males, show a marked increase in fat mass at 16 weeks of age

increased lean body mass ( J:294716 )

♀ • females, but not males, show a moderate increase in lean tissue mass at 16 weeks of age

increased body weight ( J:294716 )

• in an initial pipeline study, both sexes show an ~1.5-fold increase in body weight at 16 weeks of age, with a lager effect in female mice

• in a second, larger cohort study, females gain significantly more weight starting from 5 weeks of age and cumulatively gain 16% more weight by 16 weeks of age, while males gain 11% more weight by week 16 relative to wild-type controls

obese ( J:294716 )

♀

microcephaly ( J:294716 )

homeostasis/metabolism

increased circulating insulin level ( J:294716 )

• both sexes show elevated serum insulin levels

increased circulating cholesterol level ( J:294716 )

♀ • females, but not males, show elevated plasma cholesterol levels

increased circulating HDL cholesterol level ( J:294716 )

♀

increased circulating LDL cholesterol level ( J:294716 )

♀

increased circulating glycerol level ( J:294716 )

♀ • females, but not males, show elevated plasma glycerol levels

increased circulating triglyceride level ( J:294716 )

♀ • females, but not males, show elevated steady-state plasma levels of triglycerides

impaired glucose tolerance ( J:294716 )

♀ • females, but not males, show elevated plasma glucose levels during a glucose tolerance test

behavior/neurological

decreased exploration in new environment ( J:294716 )

• mice move 22% less than wild-type controls in a 20-min open field test and 21% less in a 10-min elevated plus maze (EPM) test, indicating reduced exploratory activity

• however, no significant difference is seen in the time spent in the periphery and center in the open field, or in the closed versus open arms in EPM tests, suggesting normal anxiety levels

abnormal social recognition ( J:294716 )

♀ • in a 2-step social recognition test, mice exhibit normal social learning but 24 hours later fail to distinguish a familiar mouse from a novel one in the discrimination test, indicating impaired social memory

♀ • however, mice show normal social preference towards conspecifics in a 3-chamber sociability test

adipose tissue

increased body fat mass ( J:294716 )

♀ • females, but not males, show a marked increase in fat mass at 16 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intellectual disability		DOID:1059		J:294716

Genotype
MGI:6717371

ht3

• Allelic Composition: Trappc9^{tm1a(EUCOMM)Wtsi}/Trappc9⁺
• Genetic Background: involves: C57BL/6N

nervous system

decreased brain weight ( J:294716 )

• heterozygotes with a maternally inherited mutant allele display a milder but significant reduction in adult brain weight

• however, heterozygotes with a paternally inherited mutant allele display normal brain weight

growth/size/body

increased body weight ( J:294716 )

• similar to homozygotes, heterozygotes with a maternally inherited mutant allele show a significant increase in body weight in both sexes

• weight increase starts from 6 weeks of age in males and 8 weeks of age in females and results in a weight gain of, respectively, 21% and 13% by week 16 relative to wild-type controls

• however, heterozygotes with a paternally inherited mutant allele display normal body weight gain

behavior/neurological

decreased exploration in new environment ( J:294716 )

• similar to homozygotes, heterozygotes with a maternally inherited mutant allele show reduced exploratory activity in the open field and elevated plus maze tests

• however, heterozygotes with a paternally inherited mutant allele display normal levels exploratory activity

abnormal social recognition ( J:294716 )

• in the 2-step social recognition test, 6 of 10 heterozygotes with a maternally inherited mutant allele either erroneously prefer the familiar mouse or show no difference in long-term social memory test, while heterozygotes with a paternally inherited mutant allele display a similar but milder defect in Iong-term social memory

cellular

paternal imprinting ( J:294716 )

• heterozygotes with a maternally inherited mutant allele (70% reduced expression) display pathology similar to that observed in homozygotes, whereas heterozygotes with a paternally inherited mutant allele (30% reduction) are phenotypically normal