Phenotypes associated with this allele

• Allele Symbol: B9d1^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432284
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	B9d1^tm1a(EUCOMM)Wtsi/B9d1^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:5301334
hm2	B9d1^tm1a(EUCOMM)Wtsi/B9d1^tm1a(EUCOMM)Wtsi	involves: C57BL/6N * CD-1	MGI:5301335
ht3	B9d1^tm1a(EUCOMM)Wtsi/B9d1^+	C57BL/6N-B9d1^tm1a(EUCOMM)Wtsi/Ics	MGI:5782031

Genotype
MGI:5301334

hm1

• Allelic Composition: B9d1^{tm1a(EUCOMM)Wtsi}/B9d1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0060_2_H09

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

cardiovascular system

thin myocardium ( J:178421 )

• in some mice

ventricular septal defect ( J:178421 )

• in some mice at E13.5

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:178421 )

• Background Sensitivity: mice on a C57BL/6 background die at about E14.5 compared with mice on a C57BL/6 and CD-1 mixed background survive until E17.5 and P1

cellular

decreased embryonic cilium length ( J:178421 )

• the few nodal cilia that form are short with swollen tips

decreased embryonic cilium number ( J:178421 )

• the few nodal cilia that form are short with swollen tips

limbs/digits/tail

preaxial polydactyly ( J:178421 )

• with either one or two extra digits at E13.5

• more prevalent in the hind limbs than fore limbs

craniofacial

cleft palate ( J:178421 )

• in 9 of 19 mice at E13.5

muscle

thin myocardium ( J:178421 )

• in some mice

digestive/alimentary system

cleft palate ( J:178421 )

• in 9 of 19 mice at E13.5

embryo

decreased embryonic cilium length ( J:178421 )

• the few nodal cilia that form are short with swollen tips

decreased embryonic cilium number ( J:178421 )

• the few nodal cilia that form are short with swollen tips

growth/size/body

cleft palate ( J:178421 )

• in 9 of 19 mice at E13.5

nervous system

holoprosencephaly ( J:178421 )

• in some mice at E10.5

telencephalon hypoplasia ( J:178421 )

• at E11.5

exencephaly ( J:178421 )

• in 3 of 49 mice at E11.5

Genotype
MGI:5301335

hm2

• Allelic Composition: B9d1^{tm1a(EUCOMM)Wtsi}/B9d1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N * CD-1
• Cell Lines: EPD0060_2_H09

mortality/aging

perinatal lethality, complete penetrance ( J:178421 )

• mice die between E17.5 and P1

lethality throughout fetal growth and development, incomplete penetrance ( J:178421 )

• mice die between E17.5 and P1

renal/urinary system

abnormal kidney morphology ( J:178421 )

• at E18.5, kidneys exhibit dilation and cystic pathology in multiple nephrons segments unlike wild-type mice

abnormal renal tubule epithelial cell primary cilium morphology ( J:178421 )

• reduced cilia at E18.5

polycystic kidney ( J:178421 )

• at E18.5

enlarged kidney ( J:178421 )

• at E18.5

renal tubule hypertrophy ( J:178421 )

• at E18.5

dilated nephron ( J:178421 )

• at E18.5

liver/biliary system

abnormal bile duct development ( J:178421 )

• ductal plates persisted as peripheral rings at P1

• however, bile ducts develop cilia

bile duct hyperplasia ( J:178421 )

• at P1

abnormal liver morphology ( J:178421 )

• at P1, hyperplastic portal mesenchyme separate enlarged bile ducts from portal veins unlike in wild-type mice

cardiovascular system

dextrocardia ( J:178421 )

• in 20 of 45 mice

craniofacial

abnormal facial morphology ( J:178421 )

• at E10.5, mice display midline facial defects

vision/eye

microphthalmia ( J:178421 )

• in 32 of 37 mice

endocrine/exocrine glands

abnormal bile duct development ( J:178421 )

• ductal plates persisted as peripheral rings at P1

• however, bile ducts develop cilia

bile duct hyperplasia ( J:178421 )

• at P1

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:178421 )

• reduced cilia at E18.5

growth/size/body

abnormal facial morphology ( J:178421 )

• at E10.5, mice display midline facial defects

polycystic kidney ( J:178421 )

• at E18.5

enlarged kidney ( J:178421 )

• at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:178421

Genotype
MGI:5782031

ht3

• Allelic Composition: B9d1^{tm1a(EUCOMM)Wtsi}/B9d1⁺
• Genetic Background: C57BL/6N-B9d1^{tm1a(EUCOMM)Wtsi}/Ics
• Cell Lines: EPD0060_2_H09

Data Sources

IMPC Data for B9d1

behavior/neurological

abnormal response to tactile stimuli ( J:165965 )

IMPC - ICS

abnormal startle reflex ( J:165965 )

♂

IMPC - ICS

growth/size/body

increased body weight ( J:165965 )

♂

IMPC - ICS