Phenotypes associated with this allele

• Allele Symbol: Brd4⁺
• Allele Name: wild type
• Allele ID: MGI:2439475
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Brd4^tm1b(EUCOMM)Wtsi/Brd4^+	C57BL/6N-Brd4^tm1b(EUCOMM)Wtsi/Bay	MGI:6288359
ht2	Brd4^Gt(pGT1.8TM)ST132Nimr/Brd4^+	involves: 129P2/Ola * C57BL/6J	MGI:2674195
ht3	Brd4^M1Rvt/Brd4^+	involves: BALB/cAnNCrl * C3H/HeH	MGI:6368208

Genotype
MGI:6288359

ht1

• Allelic Composition: Brd4^{tm1b(EUCOMM)Wtsi}/Brd4⁺
• Genetic Background: C57BL/6N-Brd4^{tm1b(EUCOMM)Wtsi}/Bay
• Cell Lines: EPD0445_5_C02

Data Sources

IMPC Data for Brd4

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

behavior/neurological

increased grip strength ( J:211773 )

♂

IMPC - BCM

cardiovascular system

abnormal retina blood vessel morphology ( J:211773 )

♂

IMPC - BCM

craniofacial

abnormal cranium morphology ( J:211773 )

IMPC - BCM

limbs/digits/tail

short tibia ( J:211773 )

IMPC - BCM

nervous system

decreased prepulse inhibition ( J:211773 )

♀

IMPC - BCM

skeleton

abnormal cranium morphology ( J:211773 )

IMPC - BCM

short tibia ( J:211773 )

IMPC - BCM

vision/eye

abnormal retina blood vessel morphology ( J:211773 )

♂

IMPC - BCM

abnormal eye posterior chamber depth ( J:211773 )

♀

IMPC - BCM

abnormal retina inner nuclear layer morphology ( J:211773 )

IMPC - BCM

abnormal retina outer nuclear layer morphology ( J:211773 )

♀

IMPC - BCM

decreased total retina thickness ( J:211773 )

IMPC - BCM

Genotype
MGI:2674195

ht2

• Allelic Composition: Brd4^{Gt(pGT1.8TM)ST132Nimr}/Brd4⁺
• Genetic Background: involves: 129P2/Ola * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:76662 )

• 50% of heterozygous animals die within the first two weeks of birth

craniofacial

abnormal craniofacial bone morphology ( J:76662 )

short mandible ( J:76662 )

short premaxilla ( J:76662 )

• short incisive bone

short nasal bone ( J:76662 )

• short and bent nasal bone

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:76662 )

♂ • lacking spermatogenic cells

growth/size/body

short mandible ( J:76662 )

short premaxilla ( J:76662 )

• short incisive bone

short nasal bone ( J:76662 )

• short and bent nasal bone

embryonic growth retardation ( J:76662 )

• at E10 through birth, heterozygous embryos weighed 25% less than littermates;

postnatal growth retardation ( J:76662 )

• after birth, heterozygous embryos weighed 10% less than littermates

liver/biliary system

abnormal hepatocyte morphology ( J:76662 )

• abnormal nuclear morphology; enlarged, or cells contained two nuclei; degenerated and/or necrotic hepatocytes detected

reproductive system

abnormal seminiferous tubule morphology ( J:76662 )

♂ • lacking spermatogenic cells

abnormal spermatogenesis ( J:76662 )

♂ • impaired spermatogenesis

abnormal epididymis epithelium morphology ( J:76662 )

♂ • cells lining ducts of abnormal size/shape and abnormal nuclear morphology

abnormal vas deferens morphology ( J:76662 )

♂ • cells lining ducts of abnormal size/shape and abnormal nuclear morphology

skeleton

abnormal craniofacial bone morphology ( J:76662 )

short mandible ( J:76662 )

short premaxilla ( J:76662 )

• short incisive bone

short nasal bone ( J:76662 )

• short and bent nasal bone

vision/eye

cataract ( J:76662 )

• seen in 7 of 34 animals

microphthalmia ( J:76662 )

• seen in 4 of 34 animals

embryo

embryonic growth retardation ( J:76662 )

• at E10 through birth, heterozygous embryos weighed 25% less than littermates;

integument

mixed cellular infiltration to dermis ( J:76662 )

• increased number of neutrophils and mature fibrocytes in dermis

thick epidermis ( J:76662 )

respiratory system

short nasal bone ( J:76662 )

• short and bent nasal bone

Genotype
MGI:6368208

ht3

• Allelic Composition: Brd4^M1Rvt/Brd4⁺
• Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

renal/urinary system

nephrocalcinosis ( J:277882 )

• calcium phosphate crystals in renal cortex and papilla

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:277882 )

N • normal urinary excretion of calcium, phosphate, sodium, potassium, magnesium, urate, citrate, and protein

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrocalcinosis		DOID:12679		J:277882