Phenotypes associated with this allele

• Allele Symbol: Nsun2^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432654
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^tm1a(EUCOMM)Wtsi	B6Brd;B6N-Tyr^c-Brd Nsun2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:6273303
hm2	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^tm1a(EUCOMM)Wtsi	B6JTyr;B6N-Nsun2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5781688
hm3	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^tm1a(EUCOMM)Wtsi	C57BL/6N-Nsun2^tm1a(EUCOMM)Wtsi	MGI:5641702
hm4	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^tm1a(EUCOMM)Wtsi	involves: C57BL/6 * C57BL/6N	MGI:5790984
hm5	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:5310977
ht6	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^+	B6Brd;B6Dnk;B6N-Tyr^c-Brd Nsun2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:6273305
ht7	Nsun2^tm1a(EUCOMM)Wtsi/Nsun2^+	B6JTyr;B6N-Nsun2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5781687

Genotype
MGI:6273303

hm1

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: B6Brd;B6N-Tyr^c-Brd Nsun2^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0105_2_F10

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:232539 )

integument

abnormal coat appearance ( J:232539 )

disheveled coat ( J:232539 )

• scruffy coat

abnormal hair cycle anagen phase ( J:232539 )

craniofacial

abnormal snout morphology ( J:232539 )

growth/size/body

abnormal snout morphology ( J:232539 )

Genotype
MGI:5781688

hm2

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: B6JTyr;B6N-Nsun2^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0105_2_F10

Data Sources

IMPC Data for Nsun2

cardiovascular system

persistent dorsal ophthalmic artery ( J:239583 )

DMDD

persistent trigeminal artery ( J:239583 )

DMDD

abnormal systemic artery morphology ( J:239583 )

DMDD

retroesophageal right subclavian artery ( J:239583 )

DMDD

abnormal external carotid artery origin ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vertebral artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

ductus venosus stenosis ( J:239583 )

DMDD

craniofacial

abnormal cranium morphology ( J:175295 )

♂

IMPC - WTSI

basisphenoid bone foramen ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

abnormal tooth morphology ( J:175295 )

♂

IMPC - WTSI

abnormal snout morphology ( J:175295 )

♂

IMPC - WTSI

digestive/alimentary system

intraembryonal intestine elongation ( J:239583 )

DMDD

endocrine/exocrine glands

abnormal thymus capsule morphology ( J:239583 )

DMDD

abnormal testis morphology ( J:239583 )

DMDD

growth/size/body

abnormal tooth morphology ( J:175295 )

♂

IMPC - WTSI

abnormal snout morphology ( J:175295 )

♂

IMPC - WTSI

decreased body weight ( J:165965 )

IMPC - WTSI

thoracoschisis ( J:239583 )

DMDD

hearing/vestibular/ear

absent stapedial artery ( J:239583 )

DMDD

hematopoietic system

abnormal thymus capsule morphology ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus capsule morphology ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

limbs/digits/tail

abnormal humerus morphology ( J:175295 )

IMPC - WTSI

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

nervous system

absent segment of posterior cerebral artery ( J:239583 )

DMDD

increased trigeminal neuroma incidence ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

thin hypoglossal nerve ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

thin motoric part of trigeminal nerve ( J:239583 )

DMDD

abnormal dorsal root ganglion morphology ( J:239583 )

DMDD

reproductive system

abnormal testis morphology ( J:239583 )

DMDD

respiratory system

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

skeleton

abnormal cranium morphology ( J:175295 )

♂

IMPC - WTSI

basisphenoid bone foramen ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

abnormal tooth morphology ( J:175295 )

♂

IMPC - WTSI

abnormal humerus morphology ( J:175295 )

IMPC - WTSI

abnormal rib morphology ( J:239583 )

DMDD

abnormal joint morphology ( J:175295 )

♀

IMPC - WTSI

fusion of vertebral arches ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

abnormal lens morphology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

Genotype
MGI:5641702

hm3

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Nsun2^{tm1a(EUCOMM)Wtsi}
• Cell Lines: EPD0105_2_F10

integument

abnormal hair cycle ( J:209956 )

abnormal epidermis stratum basale morphology ( J:209956 )

Genotype
MGI:5790984

hm4

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: EPD0105_2_F10

cellular

oligozoospermia ( J:213427 )

• epididymal hypospermia

liver/biliary system

abnormal liver physiology ( J:213427 )

• decreased or absent hepatic lipidosis

adipose tissue

decreased total body fat amount ( J:213427 )

decreased percent body fat/body weight ( J:213427 )

endocrine/exocrine glands

testis degeneration ( J:213427 )

behavior/neurological

decreased grip strength ( J:213427 )

hyperactivity ( J:213427 )

craniofacial

abnormal cranium morphology ( J:213427 )

abnormal tooth morphology ( J:213427 )

abnormal snout morphology ( J:213427 )

growth/size/body

abnormal tooth morphology ( J:213427 )

abnormal snout morphology ( J:213427 )

decreased lean body mass ( J:213427 )

decreased body weight ( J:213427 )

decreased body length ( J:213427 )

hematopoietic system

increased erythrocyte cell number ( J:213427 )

decreased mean corpuscular hemoglobin ( J:213427 )

decreased mean corpuscular volume ( J:213427 )

homeostasis/metabolism

decreased circulating glucose level ( J:213427 )

decreased circulating cholesterol level ( J:213427 )

decreased circulating HDL cholesterol level ( J:213427 )

decreased circulating LDL cholesterol level ( J:213427 )

decreased circulating free fatty acids level ( J:213427 )

decreased circulating glycerol level ( J:213427 )

decreased circulating amylase level ( J:213427 )

decreased energy expenditure ( J:213427 )

increased energy expenditure ( J:213427 )

increased carbon dioxide production ( J:213427 )

increased oxygen consumption ( J:213427 )

improved glucose tolerance ( J:213427 )

integument

abnormal hair cycle anagen phase ( J:213427 )

abnormal hair shedding ( J:213427 )

limbs/digits/tail

abnormal humerus morphology ( J:213427 )

abnormal deltoid tuberosity morphology ( J:213427 )

mortality/aging

lethality, incomplete penetrance ( J:213427 )

reproductive system

oligozoospermia ( J:213427 )

• epididymal hypospermia

testis degeneration ( J:213427 )

abnormal fertility/fecundity ( J:213427 )

skeleton

abnormal cranium morphology ( J:213427 )

abnormal tooth morphology ( J:213427 )

abnormal humerus morphology ( J:213427 )

abnormal deltoid tuberosity morphology ( J:213427 )

decreased length of long bones ( J:213427 )

abnormal spine curvature ( J:213427 )

kyphosis ( J:213427 )

lordosis ( J:213427 )

decreased bone mineral content ( J:213427 )

decreased bone mineral density ( J:213427 )

abnormal joint morphology ( J:213427 )

vision/eye

abnormal cornea morphology ( J:213427 )

abnormal lens morphology ( J:213427 )

cataract ( J:213427 )

Genotype
MGI:5310977

hm5

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

growth/size/body

decreased body size ( J:179810 )

• appreciably smaller than controls

reproductive system

male infertility ( J:179810 )

♂

Genotype
MGI:6273305

ht6

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2⁺
• Genetic Background: B6Brd;B6Dnk;B6N-Tyr^c-Brd Nsun2^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0105_2_F10

integument

abnormal hair cycle ( J:232539 )

♀ • premature exogen

abnormal hair shedding ( J:232539 )

♀ • at necropsy (16.3 weeks of age), mice fed a high-fat diet exhibit premature separation of the club hair from the surrounding follicle, leaving an empty area or breakage

Genotype
MGI:5781687

ht7

• Allelic Composition: Nsun2^{tm1a(EUCOMM)Wtsi}/Nsun2⁺
• Genetic Background: B6JTyr;B6N-Nsun2^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0105_2_F10

Data Sources

IMPC Data for Nsun2

homeostasis/metabolism

decreased circulating amylase level ( J:175295 )

IMPC - WTSI

hematopoietic system

decreased mean corpuscular volume ( J:165965 )

♀

IMPC - WTSI

growth/size/body

decreased body weight ( J:165965 )

IMPC - WTSI

vision/eye

excessive tearing ( J:165965 )

♀

IMPC - WTSI